ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.42C>T (p.Ser14=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811871 SCV000952161 uncertain significance Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant 2018-12-14 criteria provided, single submitter clinical testing This sequence change affects codon 14 of the CHCHD10 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CHCHD10 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CHCHD10-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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