Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409957 | SCV000486416 | likely pathogenic | Metachromatic leukodystrophy | 2016-05-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409957 | SCV000963658 | pathogenic | Metachromatic leukodystrophy | 2023-03-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370973). This variant has not been reported in the literature in individuals affected with ARSA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro182Hisfs*18) in the ARSA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSA are known to be pathogenic (PMID: 8962139, 10477432). |
Genome- |
RCV000409957 | SCV001810265 | likely pathogenic | Metachromatic leukodystrophy | 2021-07-22 | criteria provided, single submitter | clinical testing |