ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)

dbSNP: rs773686174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481104 SCV000573448 uncertain significance not provided 2023-08-12 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000481104 SCV000707971 pathogenic not provided 2017-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381261 SCV001579582 pathogenic Bethlem myopathy 1A 2024-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg521*) in the COL6A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A2 are known to be pathogenic (PMID: 19884007, 20976770). This variant is present in population databases (rs773686174, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL6A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 423719). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000481104 SCV002019665 pathogenic not provided 2020-05-26 criteria provided, single submitter clinical testing

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