ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2326del (p.Ser776fs)

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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 RCV003031409 SCV003318816 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser776Alafs*30) in the MALT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the MALT1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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