ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.268C>T (p.Arg90Cys)

gnomAD frequency: 0.00001  dbSNP: rs765935815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003529474 SCV004293131 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2023-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 90 of the PROS1 protein (p.Arg90Cys). 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. 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 not expected to disrupt PROS1 protein function. This missense change has been observed in individual(s) with protein S deficiency (PMID: 28174134, 30669159, 31068512). This variant is present in population databases (rs765935815, gnomAD 0.003%).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796822 SCV005418975 uncertain significance Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive criteria provided, single submitter clinical testing PM2_Supporting+PP3+PS4_Supporting+PP4

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