ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1107+1del

dbSNP: rs1057517036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410748 SCV000486640 likely pathogenic Metachromatic leukodystrophy 2016-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410748 SCV001581839 pathogenic Metachromatic leukodystrophy 2020-03-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the ARSA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with ARSA-related conditions (PMID: 26131420, 20890085). ClinVar contains an entry for this variant (Variation ID: 371139). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ARSA are known to be pathogenic (PMID: 8962139, 10477432). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000410748 SCV002081645 pathogenic Metachromatic leukodystrophy 2021-04-19 no assertion criteria provided clinical testing

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