ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1184T>C (p.Val395Ala)

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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 RCV003087979 SCV003477804 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2022-08-07 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 disruptive. 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. 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 valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 395 of the MALT1 protein (p.Val395Ala).
Ambry Genetics RCV004073106 SCV004901170 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.1184T>C (p.V395A) alteration is located in exon 10 (coding exon 10) of the MALT1 gene. This alteration results from a T to C substitution at nucleotide position 1184, causing the valine (V) at amino acid position 395 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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