ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) (rs104894594)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214750 SCV001386451 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 643 of the NAGLU protein (p.Arg643Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals and families affected with mucopolysaccharidosis type III (PMID: 10094189, 20852935, 26907177, 18218046). ClinVar contains an entry for this variant (Variation ID: 1565). 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.
OMIM RCV000001631 SCV000021787 pathogenic Mucopolysaccharidosis, MPS-III-B 1999-01-01 no assertion criteria provided literature only
GeneReviews RCV001030808 SCV001194297 pathogenic Mucopolysaccharidosis 2019-09-04 no assertion criteria provided literature only

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