ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)

dbSNP: rs9153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685394 SCV000812872 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 2022-07-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 565755). This variant has not been reported in the literature in individuals affected with CHCHD10-related conditions. This variant is present in population databases (rs9153, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Tyr104*) in the CHCHD10 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHCHD10 cause disease.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268858 SCV001448065 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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