ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2195T>C (p.Met732Thr)

gnomAD frequency: 0.00026  dbSNP: rs141329024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814770 SCV000955195 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 732 of the MALT1 protein (p.Met732Thr). This variant is present in population databases (rs141329024, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 658035). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MALT1 protein function. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000814770 SCV001468428 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2021-03-30 criteria provided, single submitter clinical testing MALT1 NM_006785.3 exon 17 p.Met732Thr (c.2195T>C): This variant has not been reported in the literature but is present in 0.06% (17/25120) of Finnish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/18-56414794-T-C?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:658035). Evolutionary conservation suggest thats this variant may not impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002537388 SCV003712421 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.2195T>C (p.M732T) alteration is located in exon 17 (coding exon 17) of the MALT1 gene. This alteration results from a T to C substitution at nucleotide position 2195, causing the methionine (M) at amino acid position 732 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004792519 SCV005408620 uncertain significance not provided 2024-02-28 criteria provided, single submitter clinical testing BP4

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