ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.41C>G (p.Ser14Trp)

gnomAD frequency: 0.00011  dbSNP: rs941975162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052466 SCV001216678 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 14 of the MALT1 protein (p.Ser14Trp). This variant is present in population databases (no rsID available, 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: 848660). 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.
Ambry Genetics RCV003346282 SCV004075294 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.41C>G (p.S14W) alteration is located in exon 1 (coding exon 1) of the MALT1 gene. This alteration results from a C to G substitution at nucleotide position 41, causing the serine (S) at amino acid position 14 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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