ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.959A>G (p.Asp320Gly)

gnomAD frequency: 0.00001  dbSNP: rs762925433
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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 RCV001899661 SCV002145454 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2021-10-11 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 (rs762925433, ExAC 0.002%). This sequence change replaces aspartic acid with glycine at codon 320 of the MALT1 protein (p.Asp320Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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