ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.428+1G>A

dbSNP: rs1569517717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000018716 SCV002240261 pathogenic Bethlem myopathy 1A 2024-07-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the COL6A1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of 22 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with autosomal dominant Bethlem myopathy (PMID: 11932968, 25535305, 28831785). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17176). Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in exon 3 (PMID: 11932968). For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795926 SCV005416601 pathogenic Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting+PS4_Supporting+PP1_Strong+PP4
OMIM RCV000018716 SCV000038999 pathogenic Bethlem myopathy 1A 2002-04-01 no assertion criteria provided literature only

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