ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.762del (p.Ser255fs)

dbSNP: rs746057093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001785163 SCV002020956 likely pathogenic Glucocorticoid deficiency with achalasia 2021-04-15 criteria provided, single submitter clinical testing
GeneDx RCV003442904 SCV004168296 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing Frameshift 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: 28371804, 29874194, 31937715)
Labcorp Genetics (formerly Invitae), Labcorp RCV003442904 SCV004294190 pathogenic not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser255Valfs*36) 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 (rs746057093, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Achalasia-addisonianism-alacrimia syndrome (PMID: 29874194, 31937715). ClinVar contains an entry for this variant (Variation ID: 1323789). For these reasons, this variant has been classified as Pathogenic.

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