ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.325G>T (p.Gly109Cys)

dbSNP: rs1156578125
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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 RCV000824240 SCV000965130 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2018-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 109 of the PROC protein (p.Gly109Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant has not been reported in the literature in individuals with PROC-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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