ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1993A>G (p.Lys665Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003065363 SCV003458341 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-08-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MALT1-related conditions. This variant is present in population databases (rs780362968, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 665 of the MALT1 protein (p.Lys665Glu).
Mayo Clinic Laboratories, Mayo Clinic RCV003481380 SCV004224500 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing BP4

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