ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.269G>C (p.Arg90Pro)

dbSNP: rs200886866
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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 RCV001205963 SCV001377247 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2019-10-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 disrupts the p.Arg90 amino acid residue in PROS1. Other variant(s) that disrupt this residue have been observed in individuals with PROS1-related conditions (PMID: 30669159), which suggests that this may be a clinically significant amino acid residue. This variant has been observed in an individual with clinical features consistent with PROS1-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 90 of the PROS1 protein (p.Arg90Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline.

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