ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.517T>G (p.Ser173Ala)

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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 RCV002770498 SCV003021717 uncertain significance Hyper-IgM syndrome type 2 2023-06-16 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1983875). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. This variant is present in population databases (rs748806207, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 173 of the AICDA protein (p.Ser173Ala).

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