ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.571C>T (p.Arg191Ter)

gnomAD frequency: 0.00001  dbSNP: rs1266114717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788130 SCV000927139 likely pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000823030 SCV000963868 pathogenic Combined immunodeficiency due to MALT1 deficiency 2018-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MALT1 are known to be pathogenic (PMID: 23727036, 25627829). This variant has not been reported in the literature in individuals with MALT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg191*) in the MALT1 gene. It is expected to result in an absent or disrupted protein product.

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