ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.295dup (p.Arg99fs)

dbSNP: rs1555901056
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Total submissions: 2
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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).

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