ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.67G>A (p.Ala23Thr)

gnomAD frequency: 0.00001  dbSNP: rs994799429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333586 SCV001526216 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2018-04-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333586 SCV002956267 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2023-01-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 1031680). This variant has not been reported in the literature in individuals affected with MALT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 23 of the MALT1 protein (p.Ala23Thr).

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