ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)

dbSNP: rs1328141615
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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 RCV003107241 SCV003782831 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-05-17 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1530 of the COL12A1 protein (p.Met1530Ile).

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