ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)

gnomAD frequency: 0.00001  dbSNP: rs781647177
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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 RCV001219138 SCV001391059 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2020-10-01 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 with COL12A1-related conditions. This variant is present in population databases (rs781647177, ExAC 0.003%). This sequence change replaces glutamic acid with lysine at codon 2440 of the COL12A1 protein (p.Glu2440Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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