ClinVar Miner

Submissions for variant NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro)

dbSNP: rs149712114
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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 RCV000074439 SCV003275022 uncertain significance Predisposition to invasive fungal disease due to CARD9 deficiency 2022-09-07 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects CARD9 function (PMID: 23335372, 31414217, 33558980). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 88851). This missense change has been observed in individual(s) with CARD9 deficiency and/or fungal infections (PMID: 23335372, 30537277, 31102464, 31414217, 33558980, 34234782). This variant is present in population databases (rs149712114, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 373 of the CARD9 protein (p.Arg373Pro).
OMIM RCV000074439 SCV000108455 risk factor Predisposition to invasive fungal disease due to CARD9 deficiency 2013-03-28 no assertion criteria provided literature only

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