ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2188T>C (p.Cys730Arg)

dbSNP: rs2144494946
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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 RCV001897165 SCV002149314 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 730 of the MALT1 protein (p.Cys730Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. This variant is not present in population databases (ExAC no frequency).

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