ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)

dbSNP: rs2145927350
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037768 SCV002233301 pathogenic Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2022-04-08 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 25113787, 25261972, 25681414; Invitae). It has also been observed to segregate with disease in related individuals. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 15 of the CHCHD10 protein (p.Arg15Leu). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change affects CHCHD10 function (PMID: 28585542, 29112723, 29315381, 29789341, 32369233). For these reasons, this variant has been classified as Pathogenic.

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