ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.5603G>A (p.Gly1868Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003065524 SCV003458698 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1868 of the VCAN protein (p.Gly1868Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 2149521). 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 tolerated. 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 RCV003065525 SCV003732791 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.5603G>A (p.G1868D) alteration is located in exon 8 (coding exon 7) of the VCAN gene. This alteration results from a G to A substitution at nucleotide position 5603, causing the glycine (G) at amino acid position 1868 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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