ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2110G>C (p.Glu704Gln)

gnomAD frequency: 0.00001  dbSNP: rs374978445
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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 RCV001218384 SCV001390265 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-07-26 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 947326). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. This variant is present in population databases (rs374978445, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 704 of the MALT1 protein (p.Glu704Gln).

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