ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.124C>T (p.Arg42Cys)

gnomAD frequency: 0.00001  dbSNP: rs774572099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200134 SCV001371014 pathogenic not provided 2020-05-01 criteria provided, single submitter clinical testing
Invitae RCV001379312 SCV001577096 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2018-06-03 criteria provided, single submitter clinical testing This variant has been observed to segregate with protein C deficiency in a family (PMID: 8324221). In addition, it has been reported in unrelated individuals affected with protein C deficiency (PMID: 24051141, 8136274). This variant is also known as Arg-1Cys in the literature. This variant is present in population databases (rs774572099, ExAC 0.002%). This sequence change replaces arginine with cysteine at codon 42 of the PROC protein (p.Arg42Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change interferes with normal protein processing, leading to reduced protein C expression and activity (PMID: 24051141, 8136274).
Fulgent Genetics, Fulgent Genetics RCV002497682 SCV002805984 likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2021-10-12 criteria provided, single submitter clinical testing

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