ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)

dbSNP: rs1779066482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269997 SCV001450406 pathogenic not provided 2018-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331279 SCV001523290 uncertain significance Metaphyseal chondrodysplasia, Schmid type 2020-04-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001269997 SCV005834555 likely pathogenic not provided 2025-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp651*) in the COL10A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 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 Schmid type metaphyseal dysplasia (PMID: 16088909). ClinVar contains an entry for this variant (Variation ID: 988566). 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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