ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2212C>A (p.Gln738Lys)

gnomAD frequency: 0.00001  dbSNP: rs2055387209
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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 RCV002016790 SCV002303327 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 738 of the MALT1 protein (p.Gln738Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. 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. 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.

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