ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.310G>A (p.Val104Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003846420 SCV004694916 uncertain significance Polyglandular autoimmune syndrome, type 1 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 104 of the AIRE protein (p.Val104Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. 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. 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.
PreventionGenetics, part of Exact Sciences RCV004755024 SCV005342726 uncertain significance AIRE-related disorder 2024-09-18 no assertion criteria provided clinical testing The AIRE c.310G>A variant is predicted to result in the amino acid substitution p.Val104Met. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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