ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)

dbSNP: rs1366031091
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen RCV000815727 SCV002037608 uncertain significance Ethylmalonic encephalopathy 2020-08-18 reviewed by expert panel curation 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000815727 SCV000956195 uncertain significance Ethylmalonic encephalopathy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 254 of the ETHE1 protein (p.Ala254Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ETHE1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000815727 SCV001454612 uncertain significance Ethylmalonic encephalopathy 2020-09-16 no assertion criteria provided clinical testing

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