ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly)

gnomAD frequency: 0.00001  dbSNP: rs751472303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063219 SCV001228056 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 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 6 of the CHCHD10 protein (p.Arg6Gly). This variant is present in population databases (rs751472303, gnomAD 0.008%). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 30014597). ClinVar contains an entry for this variant (Variation ID: 857529). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792704 SCV005410208 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing BS2

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