ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) (rs777267343)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665964 SCV000790185 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-03-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000665964 SCV000893480 pathogenic Mucopolysaccharidosis, MPS-III-A 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000665964 SCV000957485 pathogenic Mucopolysaccharidosis, MPS-III-A 2018-09-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 433 of the SGSH protein (p.Arg433Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs777267343, ExAC 0.03%). This variant has been observed to be homozygous or in combination with another SGSH variant in individuals affected with mucopolysaccharidosis type IIIB (PMID: 11182930, 15542396, 29023963). ClinVar contains an entry for this variant (Variation ID: 551014). Experimental studies have shown that this missense change abolishes sulfamidase activity (PMID: 15542396). For these reasons, this variant has been classified as Pathogenic.

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