ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.862C>T (p.His288Tyr)

dbSNP: rs1688667609
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel RCV001248804 SCV001335598 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2020-06-12 criteria provided, single submitter clinical testing The missense variant NM_000312.3 (PROC):c.[862C>T];[=] | p.[(His288Tyr)];[=] was found in a patient with decreased protein C activity (clot-based and chromogenic assay). The patient was suspected to have deep vein thrombosis because of repeated leg swelling. The family history was positive for recurrent thrombemolism in several relatives. The variant is absent from gnomAD/ExAC at the time of evaluation. Other missense variants at amino acid position His288 are associated with protein C deficiency (Caspers et al. 2012). In summary, we classify the variant as likely pathogenic.

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