ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.302G>A (p.Gly101Asp)

dbSNP: rs2112580877
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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 RCV001965625 SCV002243992 uncertain significance Mucopolysaccharidosis type 6 2021-05-26 criteria provided, single submitter clinical testing 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. 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 has not been reported in the literature in individuals with ARSB-related conditions. 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 sequence change replaces glycine with aspartic acid at codon 101 of the ARSB protein (p.Gly101Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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