Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409628 | SCV000486868 | likely pathogenic | Aspartylglucosaminuria | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000409628 | SCV000916055 | uncertain significance | Aspartylglucosaminuria | 2018-10-12 | criteria provided, single submitter | clinical testing | The AGA c.698+1G>T variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and variant. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice donor variants and the lack of clarifying evidence, the c.698+1G>T variant is classified as a variant of unknown significance but suspicious for pathogenicity for aspartylglycosaminuria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Baylor Genetics | RCV000409628 | SCV004214309 | likely pathogenic | Aspartylglucosaminuria | 2022-07-19 | criteria provided, single submitter | clinical testing |