ClinVar Miner

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 2018-12-27 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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