ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1324G>A (p.Val442Ile)

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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 RCV003025521 SCV003314951 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-02-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 442 of the MALT1 protein (p.Val442Ile).
Ambry Genetics RCV004983267 SCV005615018 uncertain significance Inborn genetic diseases 2024-08-15 criteria provided, single submitter clinical testing The c.1324G>A (p.V442I) alteration is located in exon 11 (coding exon 11) of the MALT1 gene. This alteration results from a G to A substitution at nucleotide position 1324, causing the valine (V) at amino acid position 442 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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