ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2338_2340dup (p.Ser780dup)

dbSNP: rs777601750
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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 RCV000820426 SCV000961138 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-07-11 criteria provided, single submitter clinical testing This variant, c.2338_2340dup, results in the insertion of 1 amino acid(s) of the MALT1 protein (p.Ser780dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777601750, gnomAD 0.03%). 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: 662711). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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