Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000778370 | SCV000914588 | uncertain significance | Glucocorticoid deficiency with achalasia | 2018-11-12 | criteria provided, single submitter | clinical testing | The AAAS c.936-2A>G variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not reported in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite its location in a region of good sequencing coverage. It is therefore presumed to be rare. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, the c.936-2A>G variant is classified as of uncertain significance but suspicious for pathogenicity for achalasia-addisonianism-alacrima syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |