Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674138 | SCV000799421 | likely pathogenic | Metachromatic leukodystrophy | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674138 | SCV001403619 | pathogenic | Metachromatic leukodystrophy | 2022-03-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ARSA-related conditions. This variant is present in population databases (rs776748338, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu183Thrfs*27) 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). ClinVar contains an entry for this variant (Variation ID: 557936). For these reasons, this variant has been classified as Pathogenic. |