ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala)

dbSNP: rs1769227311
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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 RCV001324289 SCV001515238 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2020-05-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with COL12A1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 2431 of the COL12A1 protein (p.Val2431Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
Revvity Omics, Revvity RCV003145570 SCV003832808 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing

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