ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1547C>T (p.Pro516Leu)

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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 RCV005198329 SCV005834648 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2024-03-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 516 of the PROS1 protein (p.Pro516Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with protein S deficiency (PMID: 26466767). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.

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