ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1600_1601delinsAA (p.Ala534Asn)

dbSNP: rs2115056168
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982778 SCV002222943 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-07-03 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1445177). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 534 of the CARD11 protein (p.Ala534Asn).

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