ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)

gnomAD frequency: 0.00004  dbSNP: rs776814144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000985065 SCV001520221 uncertain significance Mucopolysaccharidosis type 6 2019-09-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000985065 SCV002269981 likely pathogenic Mucopolysaccharidosis type 6 2021-09-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 152 of the ARSB protein (p.Arg152Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs776814144, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. ClinVar contains an entry for this variant (Variation ID: 800876). 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. This variant disrupts the p.Arg152 amino acid residue in ARSB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8125475, 17458871, 23557332, 24221504). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985065 SCV001133012 likely pathogenic Mucopolysaccharidosis type 6 2019-09-15 no assertion criteria provided clinical testing

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