ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.692T>C (p.Val231Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994766 SCV004812869 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2023-09-04 criteria provided, single submitter clinical testing This sequence change in MALT1 is predicted to replace valine with alanine at codon 231, p.(Val231Ala). The valine residue is moderately conserved (100 vertebrates, UCSC), and is located in the Ig-like C2 domain. There is a moderate physicochemical difference between valine and alanine. The highest population minor allele frequency in the population database gnomAD v2.1 is 0.0008% (1/113,108 alleles) in the European non-Finnish population. To our knowledge, this variant has not been previously reported in the relevant scientific literature or databases. Computational evidence predicts a benign effect for the missense substitution (REVEL = 0.027). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting, BP4

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