ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr)

dbSNP: rs1688694132
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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 RCV001235003 SCV001407667 uncertain significance Ehlers-Danlos syndrome, type 4 2020-02-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 1331 of the COL3A1 protein (p.Ser1331Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. 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 C15"). 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.

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