ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter)

dbSNP: rs1559926604
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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 RCV000688177 SCV000815779 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2023-07-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 567962). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PROS1 protein in which other variant(s) (p.Pro667Leu) have been determined to be pathogenic (PMID: 20181378, 29748776, 30669159; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PROS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys666*) in the PROS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the PROS1 protein.

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