ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1060C>T (p.Arg354Trp)

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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 RCV002637854 SCV003516580 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-02-02 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with MALT1-related conditions. This variant is present in population databases (rs376937708, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 354 of the MALT1 protein (p.Arg354Trp).

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