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 2023-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 152 of the ARSB protein (p.Arg152Gln). This variant is present in population databases (rs776814144, gnomAD 0.02%). This missense change has been observed in individual(s) with 34853893 (skeletal dysplasia). ClinVar contains an entry for this variant (Variation ID: 800876). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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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