ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.303C>A (p.Cys101Ter)

dbSNP: rs764808999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942304 SCV002228691 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2023-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1455313). This variant has not been reported in the literature in individuals affected with PROC-related conditions. This variant is present in population databases (rs764808999, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Cys101*) in the PROC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PROC are known to be pathogenic (PMID: 17152060).
Fulgent Genetics, Fulgent Genetics RCV002479580 SCV002796989 likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2022-02-08 criteria provided, single submitter clinical testing

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