ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.830del (p.Gly277fs)

dbSNP: rs1555872819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593616 SCV000707056 pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054019 SCV001218312 pathogenic Bethlem myopathy 1A 2019-03-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with COL6A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 500904). Loss-of-function variants in COL6A2 are known to be pathogenic (PMID: 19884007, 20976770). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly277Glufs*131) in the COL6A2 gene. It is expected to result in an absent or disrupted protein product.

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