ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) (rs772311757)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246288 SCV001419631 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 377 of the SGSH protein (p.Arg377Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs772311757, ExAC 0.01%). This variant has been observed in individuals with mucopolysaccharidosis type III (PMID: 9554748, 12000360, 21910976, 19099774). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been observed to segregate with mucopolysaccharidosis type III in a family (PMID: 19099774). ClinVar contains an entry for this variant (Variation ID: 559103). This variant has been reported to affect SGSH protein function (PMID: 10727844, 12000360). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001266348 SCV001444522 pathogenic Inborn genetic diseases 2018-09-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676150 SCV000801898 pathogenic not provided 2017-05-15 no assertion criteria provided clinical testing

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