ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003061137 SCV003456865 uncertain significance Mucopolysaccharidosis type 6 2021-04-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 16 of the ARSB protein (p.Arg16Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ARSB-related conditions. 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.

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