ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)

gnomAD frequency: 0.00001  dbSNP: rs121918173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000170573 SCV000222669 likely pathogenic Non-immune hydrops fetalis 2013-01-13 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000000942 SCV000894433 likely pathogenic Mucopolysaccharidosis type 7 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000000942 SCV003440244 pathogenic Mucopolysaccharidosis type 7 2024-02-07 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 382 of the GUSB protein (p.Arg382Cys). This variant is present in population databases (rs121918173, gnomAD 0.01%). This missense change has been observed in individual(s) with mucopolysaccharidosis type VII (PMID: 1779626, 8644704, 29620724). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 894). 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 GUSB protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects GUSB function (PMID: 1779626, 8644704). This variant disrupts the p.Arg382 amino acid residue in GUSB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8644704, 31497474). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000942 SCV000021092 pathogenic Mucopolysaccharidosis type 7 1991-01-01 no assertion criteria provided literature only

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