ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter)

dbSNP: rs111033548
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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 RCV001851930 SCV002276482 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr632*) in the COL10A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the COL10A1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with clinical features of autosomal dominant metaphyseal chondrodysplasia, Schmid type (PMID: 9708440, 12554676, 20872587). ClinVar contains an entry for this variant (Variation ID: 17478). 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 premature translational stop signal affects COL10A1 function (PMID: 12554676, 20872587). This variant is located in a region of the COL10A1 protein where a significant number of COL10A1 nonsense and frameshift mutations have been reported in association with autosomal dominant metaphyseal chondrodysplasia (PMID: 21447328, 33764685, 36400164). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019030 SCV000039317 pathogenic Metaphyseal chondrodysplasia, Schmid type 2003-02-01 no assertion criteria provided literature only

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