ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) (rs104894643)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005425 SCV000796972 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2018-01-05 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000005425 SCV000929898 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2019-01-01 criteria provided, single submitter literature only PS3: Low/absent in vivo enzymatic activity in homozygote; Low in vitro enzymatic activity. PM2: Very low frequency in ExAc. PP5: reputable source report variant as pathogenic
Invitae RCV000005425 SCV001578964 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 206 of the SGSH protein (p.Arg206Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 15542396, 15637719, 9744479). ClinVar contains an entry for this variant (Variation ID: 5118). 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. Experimental studies have shown that this variant affects SGSH protein function (PMID: 15542396). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005425 SCV000025607 pathogenic Mucopolysaccharidosis, MPS-III-A 2005-02-15 no assertion criteria provided literature only

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