ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1867_1876del (p.Tyr623fs)

dbSNP: rs2114277685
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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 RCV001933655 SCV002204050 pathogenic not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr623Metfs*51) in the COL10A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 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 individual(s) with autosomal dominant Schmid metaphyseal chondrodysplasia (PMID: 8012364). It has also been observed to segregate with disease in related individuals. This variant is also known as 1963del10, NC1del10, or Y623fsX673. ClinVar contains an entry for this variant (Variation ID: 1427331). Algorithms developed to predict the effect of variants on gene product 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: 11805116, 15695517, 20872587). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002259555 SCV000039309 pathogenic Metaphyseal chondrodysplasia, Schmid type 1994-03-01 no assertion criteria provided literature only

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