ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.841G>A (p.Asp281Asn)

dbSNP: rs750663793
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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 RCV001060667 SCV001225371 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-09-06 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. ClinVar contains an entry for this variant (Variation ID: 855404). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. This variant is present in population databases (rs750663793, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 281 of the MALT1 protein (p.Asp281Asn).

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