Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Molecular Genetics Department, |
RCV001172251 | SCV000999158 | pathogenic | Metachromatic leukodystrophy | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001172251 | SCV003225807 | pathogenic | Metachromatic leukodystrophy | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln238*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with metachromatic leukodystrophy (PMID: 33185815). ClinVar contains an entry for this variant (Variation ID: 800498). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001172251 | SCV004176518 | pathogenic | Metachromatic leukodystrophy | 2023-02-14 | criteria provided, single submitter | clinical testing |