ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)

dbSNP: rs886043354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262218 SCV000339626 pathogenic not provided 2016-02-16 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003137893 SCV003806879 likely pathogenic Bethlem myopathy 1A 2022-04-08 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated
Labcorp Genetics (formerly Invitae), Labcorp RCV003137893 SCV004484833 pathogenic Bethlem myopathy 1A 2022-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL6A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu261Argfs*5) in the COL6A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A1 are known to be pathogenic (PMID: 19884007, 20976770).

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