ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) (rs761607612)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000612947 SCV000797367 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2018-01-24 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000612947 SCV000745251 pathogenic Mucopolysaccharidosis, MPS-III-A 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612947 SCV000733743 pathogenic Mucopolysaccharidosis, MPS-III-A no assertion criteria provided clinical testing
Invitae RCV000612947 SCV000954450 pathogenic Mucopolysaccharidosis, MPS-III-A 2018-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 122 of the SGSH protein (p.Gly122Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs761607612, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another SGSH variant in individuals affected with mucopolysaccharidosis (PMID: 9401012, 21061399, 27590925, 22976768, 9554748, 11182930). ClinVar contains an entry for this variant (Variation ID: 518269). Experimental studies have shown that this missense change abrogates SGSH enzyme activity (PMID: 10727844). This variant disrupts the p.Arg122 amino acid residue in SGSH. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 24875751), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000612947 SCV000929894 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2019-01-01 criteria provided, single submitter literature only PS3: Low in vitro enzymatic activity. PM2: Very low frequency in ExAc

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