ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) (rs991104525)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723376 SCV000700262 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000593204 SCV000803081 pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Prevalence of variant in affected is significantly increased compared to controls (PS4); Very low frequence in GnomAd (PM2);Reputable source identifies as pathogenic (PP5)
Invitae RCV000593204 SCV000963521 pathogenic Mucopolysaccharidosis type 6 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 152 of the ARSB protein (p.Arg152Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with mucopolysaccharidosis type VI (MPS VI) in a family (PMID: 8125475) and has also been observed as homozygous or in combination with another ARSB variant in numerous individuals affected with MPS VI (PMID: 17458871, 23557332, 24221504). ClinVar contains an entry for this variant (Variation ID: 496789). This variant has been reported to affect the ARSB enzyme activity in vitro (PMID: 23557332). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000593204 SCV001457628 pathogenic Mucopolysaccharidosis type 6 2020-09-16 no assertion criteria provided clinical testing

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