ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3565+1G>A

dbSNP: rs2533412591
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003802300 SCV004608892 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-16 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 17 of the COL12A1 gene. Multiple COL12A1 isoforms have been reported, and the functional impact of this variant is uncertain (PMID: 8601036).

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