ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.8951A>G (p.Tyr2984Cys)

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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 RCV002710184 SCV002989533 uncertain significance not provided 2022-09-10 criteria provided, single submitter clinical testing 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. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2984 of the VCAN protein (p.Tyr2984Cys). This variant is present in population databases (rs756520143, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with VCAN-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.

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