ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.542dup (p.Leu183fs)

gnomAD frequency: 0.00003  dbSNP: rs776748338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674138 SCV000799421 likely pathogenic Metachromatic leukodystrophy 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV000674138 SCV001403619 pathogenic Metachromatic leukodystrophy 2022-03-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ARSA-related conditions. This variant is present in population databases (rs776748338, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu183Thrfs*27) 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). ClinVar contains an entry for this variant (Variation ID: 557936). For these reasons, this variant has been classified as Pathogenic.

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