ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.6238G>T (p.Val2080Phe)

dbSNP: rs764734647
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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 RCV001369965 SCV001566424 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1060524). This variant has not been reported in the literature in individuals affected with VCAN-related conditions. This variant is present in population databases (rs764734647, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2080 of the VCAN protein (p.Val2080Phe).
Ambry Genetics RCV002550094 SCV003529075 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.6238G>T (p.V2080F) alteration is located in exon 8 (coding exon 7) of the VCAN gene. This alteration results from a G to T substitution at nucleotide position 6238, causing the valine (V) at amino acid position 2080 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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