ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.933C>G (p.Ala311=)

dbSNP: rs115888189
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078461 SCV000110317 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
Invitae RCV000963953 SCV001111131 benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123008 SCV001281800 uncertain significance Mucopolysaccharidosis, MPS-III-B 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV001698752 SCV004138372 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing NAGLU: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001698752 SCV001917074 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001698752 SCV001965823 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001123008 SCV002093260 likely benign Mucopolysaccharidosis, MPS-III-B 2019-12-05 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.