ClinVar Miner

Submissions for variant NM_052813.5(CARD9):c.820dup (p.Asp274fs)

dbSNP: rs753050033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002271346 SCV004295621 pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency 2023-06-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs753050033, gnomAD 0.05%). This sequence change creates a premature translational stop signal (p.Asp274Glyfs*61) 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 premature translational stop signal has been observed in individual(s) with clinical features of CARD9 deficiency (PMID: 24231284). This variant is also known as c.819-820insG (p.D274fsX60). ClinVar contains an entry for this variant (Variation ID: 1698432). For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002271346 SCV005416305 likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency criteria provided, single submitter clinical testing PM2_Supporting+PM3_Strong+PP4
OMIM RCV002271346 SCV002555554 risk factor Predisposition to invasive fungal disease due to CARD9 deficiency 2022-07-27 no assertion criteria provided literature only

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