ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)

gnomAD frequency: 0.00001  dbSNP: rs746206847
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Total submissions: 5
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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 RCV000677562 SCV000803075 likely 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); Very low frequency in ExAC (PM2)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677562 SCV001225796 pathogenic Mucopolysaccharidosis type 6 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 144 of the ARSB protein (p.Gly144Arg). This variant is present in population databases (rs746206847, gnomAD 0.004%). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 8116615, 16435196, 26909334, 30982216). ClinVar contains an entry for this variant (Variation ID: 559783). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARSB protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ARSB function (PMID: 8116615). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000677562 SCV001810267 likely pathogenic Mucopolysaccharidosis type 6 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000677562 SCV004209192 pathogenic Mucopolysaccharidosis type 6 2024-03-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000677562 SCV002084982 pathogenic Mucopolysaccharidosis type 6 2020-09-04 no assertion criteria provided clinical testing

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