ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser)

dbSNP: rs863223460
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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 RCV002241684 SCV001484471 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2020-03-17 criteria provided, single submitter clinical testing 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 variant has not been reported in the literature in individuals with COL5A1-related conditions. This sequence change replaces threonine with serine at codon 1551 of the COL5A1 protein (p.Thr1551Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency).

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