ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)

dbSNP: rs751026400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001172251 SCV000999158 pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing
Invitae RCV001172251 SCV003225807 pathogenic Metachromatic leukodystrophy 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln238*) 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: 33185815). ClinVar contains an entry for this variant (Variation ID: 800498). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV001172251 SCV004176518 pathogenic Metachromatic leukodystrophy 2023-02-14 criteria provided, single submitter clinical testing

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