ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)

dbSNP: rs762438750
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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 RCV003529469 SCV004293124 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly489*) 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 premature translational stop signal has been observed in individual(s) with protein S deficiency disease (PMID: 7545463). This variant is also known as Gly448Term. For these reasons, this variant has been classified as Pathogenic.

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