ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.971G>T (p.Gly324Val)

gnomAD frequency: 0.00004  dbSNP: rs398123125
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078005 SCV000109843 pathogenic not provided 2014-01-07 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000677616 SCV000803134 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 frequencyin GnomAD (PM2); Reputable source identifies as pathogenic (PP5)
Invitae RCV000677616 SCV000835529 pathogenic Mucopolysaccharidosis type 6 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 324 of the ARSB protein (p.Gly324Val). This variant is present in population databases (rs398123125, gnomAD 0.007%). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17458871, 23557332; Invitae). ClinVar contains an entry for this variant (Variation ID: 92356). 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%. Studies have shown that this missense change alters ARSB gene expression (PMID: 23557332). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001266364 SCV001444538 pathogenic Inborn genetic diseases 2018-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000677616 SCV002809864 likely pathogenic Mucopolysaccharidosis type 6 2021-11-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000677616 SCV004209125 likely pathogenic Mucopolysaccharidosis type 6 2023-09-08 criteria provided, single submitter clinical testing

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