ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)

gnomAD frequency: 0.00003  dbSNP: rs754637718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000005351 SCV002580341 likely pathogenic Glucocorticoid deficiency with achalasia 2021-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512803 SCV003441264 pathogenic not provided 2023-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp84*) 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 (rs754637718, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with the triple A syndrome (PMID: 11159947, 15666842). ClinVar contains an entry for this variant (Variation ID: 5048). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002512803 SCV004184246 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing AAAS: PVS1, PM2, PM3
OMIM RCV002508105 SCV000025529 pathogenic Achalasia-alacrima syndrome 2008-12-01 no assertion criteria provided literature only

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