ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1154T>C (p.Met385Thr)

dbSNP: rs1688692269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801314 SCV002047523 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2021-08-04 criteria provided, single submitter clinical testing
GeneDx RCV003318690 SCV004022952 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing Reported in the heterozygous state in individuals with protein C deficiency (Alhenc-Gelas et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32717757)

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