ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.335-1G>C

dbSNP: rs779800232
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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 RCV001945833 SCV002202289 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-03-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals with COL12A1-related conditions. This variant is present in population databases (rs779800232, ExAC 0.002%). This sequence change affects an acceptor splice site in intron 4 of the COL12A1 gene. It is expected to disrupt RNA splicing. Multiple COL12A1 isoforms have been reported, and the functional impact of this variant is uncertain (PMID: 8601036).
Fulgent Genetics, Fulgent Genetics RCV001945833 SCV002783843 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-02-18 criteria provided, single submitter clinical testing

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