ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1084C>T (p.Gln362Ter)

dbSNP: rs1559931820
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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 RCV001380840 SCV001579025 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2020-02-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PROS1-related conditions. Loss-of-function variants in PROS1 are known to be pathogenic (PMID: 9241758). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln362*) in the PROS1 gene. It is expected to result in an absent or disrupted protein product.

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