ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1140_1142+2del

dbSNP: rs1747980506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224761 SCV001396981 likely pathogenic Mucopolysaccharidosis type 6 2019-04-16 criteria provided, single submitter clinical testing Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. This variant is a deletion of the genomic region encompassing part of exon 5 (c.1140_1142+2del) of the ARSB 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). This variant has not been reported in the literature in individuals with ARSB-related conditions.

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