ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.641G>T (p.Ser214Ile)

gnomAD frequency: 0.00003  dbSNP: rs150590191
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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 RCV001060817 SCV001225530 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 214 of the MALT1 protein (p.Ser214Ile). This variant is present in population databases (rs150590191, gnomAD 0.007%). 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: 855534). 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.

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