ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.4901C>A (p.Ser1634Tyr)

gnomAD frequency: 0.00004  dbSNP: rs765791345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341805 SCV001535696 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1634 of the VCAN protein (p.Ser1634Tyr). This variant is present in population databases (rs765791345, gnomAD 0.004%). 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: 1038488). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV003294343 SCV004008453 uncertain significance Inborn genetic diseases 2023-03-27 criteria provided, single submitter clinical testing The c.4901C>A (p.S1634Y) alteration is located in exon 8 (coding exon 7) of the VCAN gene. This alteration results from a C to A substitution at nucleotide position 4901, causing the serine (S) at amino acid position 1634 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003416236 SCV004115447 uncertain significance VCAN-related disorder 2024-09-16 no assertion criteria provided clinical testing The VCAN c.4901C>A variant is predicted to result in the amino acid substitution p.Ser1634Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% of alleles in individuals of European (non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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