ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.53C>T (p.Thr18Met)

dbSNP: rs1602263180
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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 RCV000807542 SCV000947599 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2019-10-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 18 of the MALT1 protein (p.Thr18Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with MALT1-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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