ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)

dbSNP: rs2078662535
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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 RCV001213493 SCV001385125 pathogenic Bethlem myopathy 1A 2023-03-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 943322). This premature translational stop signal has been observed in individual(s) with autosomal recessive COL6A2-related conditions (PMID: 20976770). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser769*) 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).
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV003330097 SCV004037125 pathogenic Ullrich congenital muscular dystrophy 1A criteria provided, single submitter not provided

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