ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.925A>G (p.Ile309Val)

dbSNP: rs936714310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542988 SCV000629959 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 309 of the AIRE protein (p.Ile309Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with AIRE-related disease (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 458620). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Athena Diagnostics RCV000710498 SCV000840733 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278883 SCV003987427 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.925A>G (p.I309V) alteration is located in exon 8 (coding exon 8) of the AIRE gene. This alteration results from a A to G substitution at nucleotide position 925, causing the isoleucine (I) at amino acid position 309 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000542988 SCV002083881 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-02-02 no assertion criteria provided clinical testing

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