ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)

dbSNP: rs1569518771
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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) RCV000730977 SCV000858747 pathogenic not provided 2017-12-19 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV002510582 SCV002820298 pathogenic Ullrich congenital muscular dystrophy 1A criteria provided, single submitter clinical testing The frameshift deletion p.D548Rfs*11 in COL6A1 (NM_001848.3) has been submitted to ClinVar as Pathogenic but no details are available for independent assesment. The variant has not been reported in affected individuals in the literature. The p.D548Rfs*11 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic

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