Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255523 | SCV000321310 | pathogenic | not provided | 2020-11-16 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect due to mislocalization of the ALADIN protein (Krumbholtz et al., 2006); Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 11062474, 12008750, 16609705, 11914417, 14646395, 20499090, 30381913, 29874194, 31980526) |
Pathology and Clinical Laboratory Medicine, |
RCV000005343 | SCV000996292 | pathogenic | Glucocorticoid deficiency with achalasia | criteria provided, single submitter | clinical testing | ||
Ce |
RCV000255523 | SCV001249015 | pathogenic | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV001778647 | SCV002016318 | pathogenic | Neurodevelopmental disorder | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000005343 | SCV002019721 | pathogenic | Glucocorticoid deficiency with achalasia | 2020-08-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000005343 | SCV002799259 | pathogenic | Glucocorticoid deficiency with achalasia | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000255523 | SCV004294182 | pathogenic | not provided | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg478*) in the AAAS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the AAAS protein. This variant is present in population databases (rs121918548, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with triple A syndrome (PMID: 11062474, 14646395, 29874194, 30381913). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5040). 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. |
OMIM | RCV000005343 | SCV000025521 | pathogenic | Glucocorticoid deficiency with achalasia | 2002-03-26 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000005343 | SCV001132828 | pathogenic | Glucocorticoid deficiency with achalasia | 2019-01-29 | no assertion criteria provided | clinical testing |