ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)

dbSNP: rs1747989303
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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 RCV001069095 SCV001234241 pathogenic Mucopolysaccharidosis type 6 2019-03-20 criteria provided, single submitter clinical testing Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ARSB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu346*) in the ARSB gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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