ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.187C>A (p.Leu63Met)

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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 RCV003076839 SCV003454005 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-06-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 63 of the AIRE protein (p.Leu63Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AIRE-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004978532 SCV005586645 uncertain significance Inborn genetic diseases 2024-08-19 criteria provided, single submitter clinical testing The c.187C>A (p.L63M) alteration is located in exon 2 (coding exon 2) of the AIRE gene. This alteration results from a C to A substitution at nucleotide position 187, causing the leucine (L) at amino acid position 63 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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