ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.364C>T (p.Leu122Phe)

gnomAD frequency: 0.00002  dbSNP: rs752277906
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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 RCV002044423 SCV002116877 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-02-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs752277906, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 122 of the MALT1 protein (p.Leu122Phe). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. 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.

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