ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1849A>G (p.Thr617Ala)

dbSNP: rs2107124973
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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 RCV002001351 SCV002274420 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2020-10-29 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. Experimental studies have shown that this variant affects PROS1 protein function (PMID: 19826897). This variant has been observed in individual(s) with protein S deficiency (PMID: 19826897). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 617 of the PROS1 protein (p.Thr617Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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