ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.284C>T (p.Ala95Val)

gnomAD frequency: 0.00001  dbSNP: rs780274954
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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 RCV000525706 SCV000637950 uncertain significance Hyper-IgM syndrome type 2 2023-05-15 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 463868). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. This variant is present in population databases (rs780274954, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 95 of the AICDA protein (p.Ala95Val).

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