ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1936G>T (p.Gly646Cys)

dbSNP: rs776022988
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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 RCV001879071 SCV002140196 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2021-08-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PROS1-related conditions. 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: "Probably Damaging"; 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. This sequence change replaces glycine with cysteine at codon 646 of the PROS1 protein (p.Gly646Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.

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