ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly)

dbSNP: rs1576180176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851651 SCV000899419 likely pathogenic Protein S deficiency disease 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001869072 SCV002132613 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2021-11-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 626965). This missense change has been observed in individual(s) with PROS1-related conditions (PMID: 26466767, 31064749). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 360 of the PROS1 protein (p.Glu360Gly).

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