ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.545G>A (p.Arg182His)

gnomAD frequency: 0.00001  dbSNP: rs372911015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384263 SCV001583692 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 182 of the SGSH protein (p.Arg182His). This variant is present in population databases (rs372911015, gnomAD 0.01%). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 31718697). ClinVar contains an entry for this variant (Variation ID: 1071734). 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 SGSH protein function with a positive predictive value of 80%. This variant disrupts the p.Arg182 amino acid residue in SGSH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9554748, 10727844, 21061399, 30809705). 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.
Neuberg Centre For Genomic Medicine, NCGM RCV001384263 SCV004175842 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2023-02-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001384263 SCV004201091 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2024-03-28 criteria provided, single submitter clinical testing

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