ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.322C>A (p.His108Asn)

gnomAD frequency: 0.00007  dbSNP: rs200234655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997201 SCV001152401 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000148741 SCV002173166 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 108 of the PROC protein (p.His108Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is present in population databases (rs200234655, ExAC 0.005%). This variant has been observed in individual(s) with protein C deficiency (PMID: 7482420, 17152060, 31254973). ClinVar contains an entry for this variant (Variation ID: 161335). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002492545 SCV002797126 uncertain significance Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2022-03-02 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148741 SCV000190478 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2014-06-01 no assertion criteria provided research

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