ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp)

dbSNP: rs2146379169
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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 RCV001896042 SCV002155691 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 227 of the AIRE protein (p.Gly227Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1384493). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.

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