Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000482171 | SCV000110792 | pathogenic | not provided | 2012-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000482171 | SCV000567088 | pathogenic | not provided | 2015-07-09 | criteria provided, single submitter | clinical testing | The c.1108-2A>G variant in the ARSA gene has been reported previously (reported as c.1102-2A>G due to alternative nomenclature) in the homozygous state in association with metachromatic leukodystrophy in an 11-year-old (Luzi et al., 2013). This splice site substitution destroys the canonical splice acceptor site in intron 6. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1108-2A>G variant was not observed 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. We interpret c.1108-2A>G as a pathogenic variant. |
Counsyl | RCV000078932 | SCV000797335 | pathogenic | Metachromatic leukodystrophy | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000078932 | SCV001520710 | pathogenic | Metachromatic leukodystrophy | 2019-12-07 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Pathology and Clinical Laboratory Medicine, |
RCV000078932 | SCV002073809 | pathogenic | Metachromatic leukodystrophy | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics, |
RCV000078932 | SCV004239256 | pathogenic | Metachromatic leukodystrophy | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000078932 | SCV001469149 | pathogenic | Metachromatic leukodystrophy | 2020-11-12 | no assertion criteria provided | clinical testing |