ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1321del (p.Cys441fs)

dbSNP: rs2055182636
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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 RCV001204346 SCV001375548 pathogenic Combined immunodeficiency due to MALT1 deficiency 2019-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys441Valfs*6) in the MALT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MALT1-related conditions. Loss-of-function variants in MALT1 are known to be pathogenic (PMID: 23727036, 25627829). For these reasons, this variant has been classified as Pathogenic.

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