ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val)

gnomAD frequency: 0.00001  dbSNP: rs372896052
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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 RCV001928808 SCV002204987 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-03-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2385 of the COL12A1 protein (p.Ala2385Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL12A1-related conditions. This variant is present in population databases (rs372896052, ExAC 0.003%).
Mayo Clinic Laboratories, Mayo Clinic RCV004793607 SCV005407901 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing PM2

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