ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)

dbSNP: rs1555900678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674946 SCV000800362 likely pathogenic Metachromatic leukodystrophy 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV000674946 SCV001384324 pathogenic Metachromatic leukodystrophy 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg293*) 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: 26553228, 31069529). ClinVar contains an entry for this variant (Variation ID: 558645). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000674946 SCV001526059 pathogenic Metachromatic leukodystrophy 2018-12-05 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. The c.877C>T (p.R293*) variant has been previously reported as disease-causing [PMID 26553228]

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