Variant: NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)

CA406174565

658833 (ClinVar)

Gene: ETHE1

Condition: ethylmalonic encephalopathy

Inheritance Mode: Autosomal recessive inheritance

UUID: 40187ae2-2f56-43ca-b39b-479efb5f5476

Approved on: 2020-08-18

Published on: 2021-10-22

HGVS expressions

NM_014297.5:c.761C>T
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)
NC_000019.10:g.43506854G>A
CM000681.2:g.43506854G>A
NC_000019.9:g.44011006G>A
CM000681.1:g.44011006G>A
NC_000019.8:g.48702846G>A
NG_008141.1:g.25391C>T
ENST00000292147.7:c.761C>T
ENST00000292147.6:c.761C>T
ENST00000594342.5:c.*324C>T
NM_014297.3:c.761C>T
NM_001320867.1:c.728C>T
NM_001320868.1:c.392C>T
NM_001320869.1:c.467C>T
NM_014297.4:c.761C>T
NM_001320867.2:c.728C>T
NM_001320868.2:c.392C>T
NM_001320869.2:c.467C>T

Uncertain Significance

• Not Met criteria codes: PS1 PP3 PP4 PM5 BP4

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

This variant was classified as a variant of uncertain significance as there has not been sufficient evidence to support either a benign or a pathogenic classification. Specifically, this variant has not been reported in the literature in affected or unaffected patients, has no published functional data, and is not present in population databases to assess allele frequency.

Not Met criteria codes

• PS1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PP3: Computational evidence presents conflicting predictions regarding the effect of this missense change. REVEL score of 0.259
• PP4: This variant has not been reported in the literature in individuals with ETHE1-related disease
• PM5: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BP4: Computational evidence presents conflicting predictions regarding the effect of this missense change. REVEL score of 0.259