ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.103_118del (p.Pro35fs)

dbSNP: rs2112583121
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388460 SCV001589459 pathogenic Mucopolysaccharidosis type 6 2020-01-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). This variant has not been reported in the literature in individuals with ARSB-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Pro35Glyfs*16) in the ARSB gene. It is expected to result in an absent or disrupted protein product.

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