ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.582del (p.Trp195fs)

dbSNP: rs2082680996
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001420189 SCV001622392 pathogenic Metachromatic leukodystrophy 2021-04-20 criteria provided, single submitter clinical testing A homozygous single base pair deletion in exon 4 of the ARSA gene that results in a frameshift and premature truncation of the protein 5 amino acids downstream to codon 195 was detected. The variant c.582del (p.Trp195Glyfs*5) has not been reported in 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001420189 SCV003484208 pathogenic Metachromatic leukodystrophy 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp195Glyfs*5) 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: 30674982). This variant is also known as c.576delC. ClinVar contains an entry for this variant (Variation ID: 1098313). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.