ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)

dbSNP: rs1408739927
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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 RCV000677606 SCV000803123 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); Absent from GnomAD (PM2)
Invitae RCV000677606 SCV002232247 pathogenic Mucopolysaccharidosis type 6 2023-09-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 559823). This missense change has been observed in individuals with mucopolysaccharidosis type VI (PMID: 18486607, 25190157, 25654180). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 303 of the ARSB protein (p.Gly303Glu).
Baylor Genetics RCV000677606 SCV004209336 likely pathogenic Mucopolysaccharidosis type 6 2023-06-22 criteria provided, single submitter clinical testing

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