Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670248 | SCV000795079 | likely pathogenic | Metachromatic leukodystrophy | 2017-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670248 | SCV001585944 | pathogenic | Metachromatic leukodystrophy | 2022-02-28 | 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: 554584). This premature translational stop signal has been observed in individual(s) with metachromatic leukodystrophy (PMID: 33385934). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg99Profs*35) 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). |