ClinVar Miner

Submissions for variant NM_052813.5(CARD9):c.865C>T (p.Gln289Ter)

gnomAD frequency: 0.00001  dbSNP: rs398122363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000074440 SCV002521058 pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID:24131138) and reported to co-segregate with the disease in at least one similarly affected individuals in the same family or similarly affected unrelated family (PMID:24131138). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV000074440 SCV002806728 pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency 2021-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000074440 SCV003441325 pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency 2024-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln289*) 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 (rs398122363, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with clinical features of CARD9-related conditions (PMID: 24131138, 25702837, 32888943). ClinVar contains an entry for this variant (Variation ID: 88852). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000074440 SCV000108456 risk factor Predisposition to invasive fungal disease due to CARD9 deficiency 2013-10-31 no assertion criteria provided literature only

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