ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003986012 SCV004801843 likely pathogenic Glucocorticoid deficiency with achalasia criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a premature translation stop signal p.Glu101Ter in the AAAS gene. The variant was observed in presumably compound heterozygous state with a known pathogenic variant (phase not tested) in an individual affected with microcephaly. Homozygous and compound heterozygous variants are reported in patients with Achalasia-addisonianism-alacrimia syndrome, 231550. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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