ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1950del (p.Pro651fs)

dbSNP: rs2144491203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052218 SCV002318791 likely pathogenic Combined immunodeficiency due to MALT1 deficiency 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%.It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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