ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.649A>G (p.Ile217Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448824 SCV004176585 uncertain significance Glucocorticoid deficiency with achalasia 2023-02-14 criteria provided, single submitter clinical testing The missense variant c.649A>G(p.Ile217Val) in AAAS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant has 0.0004% allele frequency in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Isoleucine at position 217 is changed to a Valine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ile217Val in AAAS is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. In the absence of another reportable variant, the molecular diagnosis is not confirmed.

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