Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481438 | SCV000569366 | likely pathogenic | not provided | 2016-02-09 | criteria provided, single submitter | clinical testing | The c.1501_1515del15 variant in the GAA gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The c.1501_1515del15 variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1501_1515del15 variant is an in-frame deletion that results in the loss of a five amino acid residues, denoted p.Asp501_Glu505del. All deleted residues, except Alanine 504, are conserved in mammals. Therefore, we interpret c.1501_1515del15 as a likely pathogenic variant. |