ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.5403T>A (p.Asn1801Lys)

gnomAD frequency: 0.00001  dbSNP: rs199946638
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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 RCV002019643 SCV002285960 uncertain significance not provided 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1801 of the VCAN protein (p.Asn1801Lys). This variant is present in population databases (rs199946638, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with VCAN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1498370). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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