ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.393G>T (p.Gln131His)

gnomAD frequency: 0.00010  dbSNP: rs139174369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039336 SCV001202863 uncertain significance Mucopolysaccharidosis type 6 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 131 of the ARSB protein (p.Gln131His). This variant is present in population databases (rs139174369, gnomAD 0.03%). 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: 837899). 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.
Natera, Inc. RCV001039336 SCV002084983 uncertain significance Mucopolysaccharidosis type 6 2020-09-08 no assertion criteria provided clinical testing

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