Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270778 | SCV001451537 | likely pathogenic | Harel-Yoon syndrome | 2019-05-21 | criteria provided, single submitter | clinical testing | The ATAD3A c.1108-1G>T 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 found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the predicted consequence of the variant, its rarity, and identification in trans with a pathogenic variant, the ATAD3A c.1108-1G>T variant is classified as likely pathogenic for Harel-Yoon syndrome. |