ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)

dbSNP: rs148352371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211652 SCV001383202 pathogenic Metachromatic leukodystrophy 2023-07-26 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.Cys495Phe) have been determined to be pathogenic (PMID: 19021637). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 941799). This variant has not been reported in the literature in individuals affected with ARSA-related conditions. This variant is present in population databases (rs148352371, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Glu483*) in the ARSA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the ARSA protein.
Natera, Inc. RCV001211652 SCV002081636 likely pathogenic Metachromatic leukodystrophy 2021-10-06 no assertion criteria provided clinical testing

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