ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.10102A>G (p.Lys3368Glu)

dbSNP: rs2112511308
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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 RCV002021008 SCV002298589 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 3368 of the VCAN protein (p.Lys3368Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant has not been reported in the literature in individuals with VCAN-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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.

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