ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) (rs527236037)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000132722 SCV000790585 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV001036826 SCV001200209 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-04-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 650 of the NAGLU protein (p.Gly650Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with mucopolysaccharidosis (PMID: 22976768, 10094189, 23661660). This variant has also been observed to segregate with mucopolysaccharidosis type IIIB in a family (PMID: 23661660). ClinVar contains an entry for this variant (Variation ID: 143188). 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). For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health RCV000132722 SCV000187651 pathogenic Mucopolysaccharidosis, MPS-III-B no assertion criteria provided not provided Converted during submission to Pathogenic.

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