ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) (rs1479831530)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000790554 SCV000929895 uncertain significance Mucopolysaccharidosis, MPS-III-A 2019-01-01 criteria provided, single submitter literature only PM2: Very low frequency in ExAc. PP3:multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT)
Invitae RCV000790554 SCV001578965 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-06-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 150 of the SGSH protein (p.Arg150Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another SGSH variant in several individuals affected with mucopolysaccharidosis type III (PMID: 11182930, 30809705). ClinVar contains an entry for this variant (Variation ID: 638088). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.Arg150 amino acid residue in SGSH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9401012, 9554748, 9744479, 21204211, 11343308, 21061399, 10727844). 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.

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