ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) (rs104894593)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001629 SCV000800669 uncertain significance Mucopolysaccharidosis, MPS-III-B 2018-03-06 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000001629 SCV000929910 uncertain significance Mucopolysaccharidosis, MPS-III-B 2019-01-01 criteria provided, single submitter literature only PM2: Absent from GnomAD
Invitae RCV001227283 SCV001399635 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 643 of the NAGLU protein (p.Arg643His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis (PMID: 8650226, 30809705, Invitae). ClinVar contains an entry for this variant (Variation ID: 1563). This variant has been reported to affect NAGLU protein function (PMID: 9443878). This variant disrupts the p.Arg643 amino acid residue in NAGLU. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10094189, 20852935, 26907177, 18218046). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001629 SCV000021785 pathogenic Mucopolysaccharidosis, MPS-III-B 1999-01-01 no assertion criteria provided literature only

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