ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)

dbSNP: rs1302611725
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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 RCV001973833 SCV002259872 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-06-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2554 of the COL12A1 protein (p.Arg2554Trp).
Revvity Omics, Revvity RCV003146433 SCV003831228 uncertain significance not provided 2019-01-29 criteria provided, single submitter clinical testing

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