ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1142dup (p.Leu382fs)

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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 RCV005142946 SCV005762994 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2024-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu382Serfs*13) in the PROS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PROS1 are known to be pathogenic (PMID: 9241758). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PROS1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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