ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.245del (p.Leu82fs)

gnomAD frequency: 0.00001  dbSNP: rs750845916
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Total submissions: 2
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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 RCV000677522 SCV000803032 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Frameshift variant (PVS1); Very low frequence in GnomAd (PM2)
Invitae RCV000677522 SCV004293564 pathogenic Mucopolysaccharidosis type 6 2022-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu82Argfs*32) 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). This variant is present in population databases (rs750845916, gnomAD 0.001%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559746). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 10923267).

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