ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8100+2T>C

dbSNP: rs1768702301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046111 SCV001209999 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2019-12-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 52 of the COL12A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal dominant COL12A1-related myopathy (PMID: 29342313). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency).

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