ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4081T>C (p.Trp1361Arg)

dbSNP: rs761506002
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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 RCV001875446 SCV002152366 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1386953). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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. This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1361 of the COL5A2 protein (p.Trp1361Arg).

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