ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)

gnomAD frequency: 0.00001  dbSNP: rs121918547
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000005342 SCV000746318 pathogenic Glucocorticoid deficiency with achalasia 2017-12-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000005342 SCV002019976 pathogenic Glucocorticoid deficiency with achalasia 2020-08-18 criteria provided, single submitter clinical testing
GeneDx RCV002288466 SCV002578572 likely pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29255950, 11062474)
Labcorp Genetics (formerly Invitae), Labcorp RCV002288466 SCV004294188 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg312*) in the AAAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AAAS are known to be pathogenic (PMID: 11159947). This variant is present in population databases (rs121918547, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with achalasia-addisonianism-alacrimia syndrome (PMID: 11062474, 29255950). ClinVar contains an entry for this variant (Variation ID: 5039). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005342 SCV000025520 pathogenic Glucocorticoid deficiency with achalasia 2000-11-01 no assertion criteria provided literature only

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