ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)

gnomAD frequency: 0.00001  dbSNP: rs763187844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543703 SCV000657410 pathogenic Bethlem myopathy 1A 2024-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln26*) in the COL6A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A3 are known to be pathogenic (PMID: 26004199). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive COL6A3-related conditions (PMID: 20976770). ClinVar contains an entry for this variant (Variation ID: 476558). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001783061 SCV002019674 pathogenic not provided 2019-06-24 criteria provided, single submitter clinical testing
GeneDx RCV001783061 SCV002546684 pathogenic not provided 2024-09-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 20976770)

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