ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)

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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 RCV002637399 SCV003513858 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162025 SCV003882871 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.1196C>A (p.A399D) alteration is located in exon 10 (coding exon 10) of the AIRE gene. This alteration results from a C to A substitution at nucleotide position 1196, causing the alanine (A) at amino acid position 399 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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