ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3529T>A (p.Ser1177Thr)

dbSNP: rs1006132401
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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 RCV001337977 SCV001531606 uncertain significance Ehlers-Danlos syndrome, type 4 2018-03-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possible Damaging"; Align-GVGD: "Class C0"). This sequence change replaces serine with threonine at codon 1177 of the COL3A1 protein (p.Ser1177Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL3A1-related disease.

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