Submissions for variant NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) (rs104894590)

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Total submissions: 6

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000078455	SCV000110311	pathogenic	not provided	2013-11-12	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000001626	SCV000744579	pathogenic	Mucopolysaccharidosis, MPS-III-B	2015-09-21	criteria provided, single submitter	clinical testing
Counsyl	RCV000001626	SCV000793107	likely pathogenic	Mucopolysaccharidosis, MPS-III-B	2017-07-27	criteria provided, single submitter	clinical testing
Invitae	RCV000817080	SCV000957620	pathogenic	Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V	2019-08-22	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with histidine at codon 674 of the NAGLU protein (p.Arg674His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs104894590, ExAC 0.01%). This variant has been observed in several individuals affected with MPS IIIB (PMID: 8650226, 9443875, 9950362, 20852935). ClinVar contains an entry for this variant (Variation ID: 1560). This variant has been reported to affect NAGLU protein function (PMID: 9443878). This variant disrupts the p.Arg674 amino acid residue in NAGLU. Other variant(s) that disrupt this residue have been observed in individuals with NAGLU-related conditions (PMID: 9443875, 10094189), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000001626	SCV000021782	pathogenic	Mucopolysaccharidosis, MPS-III-B	1996-06-11	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000001626	SCV000733580	pathogenic	Mucopolysaccharidosis, MPS-III-B		no assertion criteria provided	clinical testing

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