ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.128A>G (p.Asn43Ser)

gnomAD frequency: 0.00003  dbSNP: rs748858986
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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 RCV000852006 SCV000899464 uncertain significance Thromboembolism 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003768319 SCV004620410 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2023-07-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 627219). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PROS1 protein function. 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 has not been reported in the literature in individuals affected with PROS1-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 43 of the PROS1 protein (p.Asn43Ser). This variant is present in population databases (rs748858986, gnomAD 0.007%).

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