ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.3G>C (p.Met1Ile)

dbSNP: rs1403076049
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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 RCV002035461 SCV002231604 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2024-12-30 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PROS1 mRNA. The next in-frame methionine is located at codon 132. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with protein S deficiency (internal data). ClinVar contains an entry for this variant (Variation ID: 1452101). This variant disrupts a region of the PROS1 protein in which other variant(s) (p.Glu67Ala) have been determined to be pathogenic (PMID: 7803790, 15712777, 20880255, 22261441, 27748013). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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