ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.118_134del (p.Gly40fs)

dbSNP: rs398123123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078000 SCV000109838 pathogenic not provided 2013-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003495109 SCV004275376 pathogenic Mucopolysaccharidosis type 6 2023-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 92353). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly40Profs*81) in the ARSB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300).
Baylor Genetics RCV003495109 SCV005055436 likely pathogenic Mucopolysaccharidosis type 6 2024-03-20 criteria provided, single submitter clinical testing

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