ClinVar Miner

Submissions for variant NM_052813.5(CARD9):c.883C>T (p.Gln295Ter)

dbSNP: rs121918338
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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 RCV000003575 SCV001376228 pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency 2023-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln295*) in the CARD9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CARD9 are known to be pathogenic (PMID: 19864672, 24131138, 24231284). This variant is present in population databases (rs121918338, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with severe and/or recurrent fungal infections (PMID: 19864672, 25702837, 25933095, 27777981, 29307770). ClinVar contains an entry for this variant (Variation ID: 3406). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003575 SCV000023733 risk factor Predisposition to invasive fungal disease due to CARD9 deficiency 2009-10-29 no assertion criteria provided literature only

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