ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)

gnomAD frequency: 0.00005  dbSNP: rs202134230
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559158 SCV001781242 uncertain significance Mucopolysaccharidosis type 6 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001559158 SCV002792400 uncertain significance Mucopolysaccharidosis type 6 2022-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001559158 SCV003520556 uncertain significance Mucopolysaccharidosis type 6 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 159 of the ARSB protein (p.Arg159Cys). This variant is present in population databases (rs202134230, gnomAD 0.05%). 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: 1195895). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
3billion, Medical Genetics RCV001559158 SCV005328775 likely benign Mucopolysaccharidosis type 6 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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