ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.108_120del (p.Ser37fs)

dbSNP: rs1028653411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000677447 SCV000802950 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Frameshift variant(PVS1); Absent from GnomAD (PM2)
Baylor Genetics RCV000677447 SCV004202301 likely pathogenic Mucopolysaccharidosis type 6 2022-03-22 criteria provided, single submitter clinical testing
Invitae RCV000677447 SCV004293565 pathogenic Mucopolysaccharidosis type 6 2023-09-22 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: 559673). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17458871). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser37Profs*15) 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).

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