ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)

dbSNP: rs774899476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313149 SCV000380183 uncertain significance Glucocorticoid deficiency with achalasia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955412 SCV005484734 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.65A>G (p.N22S) alteration is located in exon 1 (coding exon 1) of the AAAS gene. This alteration results from a A to G substitution at nucleotide position 65, causing the asparagine (N) at amino acid position 22 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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