ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.415A>G (p.Met139Val)

dbSNP: rs104894322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003333948 SCV004042537 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing AICDA: PM3:Strong, PM2, PM5, PP3, PS3:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV000005433 SCV004295836 pathogenic Hyper-IgM syndrome type 2 2023-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Met139 amino acid residue in AICDA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27142677). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects AICDA function (PMID: 22715099). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 5126). This missense change has been observed in individuals with autosomal recessive hyper IgM syndrome (HIGM) (PMID: 11007475, 16964591). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 139 of the AICDA protein (p.Met139Val).
OMIM RCV000005433 SCV000025615 pathogenic Hyper-IgM syndrome type 2 2000-09-01 no assertion criteria provided literature only

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