ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2408T>C (p.Val803Ala)

gnomAD frequency: 0.00002  dbSNP: rs747603313
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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 RCV001886786 SCV002155301 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2021-09-06 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 803 of the MALT1 protein (p.Val803Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs747603313, ExAC 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV003416544 SCV004108849 uncertain significance MALT1-related disorder 2023-01-24 criteria provided, single submitter clinical testing The MALT1 c.2408T>C variant is predicted to result in the amino acid substitution p.Val803Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-56415007-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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