ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)

gnomAD frequency: 0.00001  dbSNP: rs1013873051
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661958 SCV000784288 uncertain significance Ullrich congenital muscular dystrophy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661959 SCV000784289 uncertain significance Bethlem myopathy 2 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000691825 SCV000819618 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144462 SCV003833322 uncertain significance not provided 2019-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411568 SCV004113776 uncertain significance COL12A1-related disorder 2023-01-05 criteria provided, single submitter clinical testing The COL12A1 c.2108C>T variant is predicted to result in the amino acid substitution p.Ala703Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-75890711-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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