ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg)

dbSNP: rs964013488
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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 RCV001984931 SCV002214914 uncertain significance Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2023-06-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1435510). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 112 of the CHCHD10 protein (p.Cys112Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of CHCHD10-related conditions (Invitae).

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