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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