ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)

dbSNP: rs2518321662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002819939 SCV003199818 pathogenic Metachromatic leukodystrophy 2022-05-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ARSA protein in which other variant(s) (p.Cys491Gly) have been determined to be pathogenic (PMID: 15026521; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.Gln467*) in the ARSA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the ARSA protein.
PreventionGenetics, part of Exact Sciences RCV003418614 SCV004112843 likely pathogenic ARSA-related disorder 2022-11-17 criteria provided, single submitter clinical testing The ARSA c.1399C>T variant is predicted to result in premature protein termination (p.Gln467*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in ARSA are expected to be pathogenic. This variant is interpreted as likely pathogenic.
GenomeConnect - GM1 RCV002819939 SCV006076312 not provided Metachromatic leukodystrophy no assertion provided phenotyping only Variant classified as Pathogenic and reported on 06-01-2022 by Invitae. GenomeConnect-GM1 assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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