ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1445G>T (p.Gly482Val)

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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 RCV003642463 SCV004509248 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 482 of the PROS1 protein (p.Gly482Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with protein S deficiency (PMID: 30669159; internal data). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PROS1 protein function with a positive predictive value of 80%. 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.

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