ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)

gnomAD frequency: 0.00087  dbSNP: rs147293270
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000284729 SCV000345154 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765355 SCV000896620 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765355 SCV000957691 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000284729 SCV001151314 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124069 SCV001282980 uncertain significance Mucopolysaccharidosis, MPS-III-B 2018-01-12 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000284729 SCV001715184 uncertain significance not provided 2020-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000284729 SCV001987405 uncertain significance not provided 2020-11-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252583 SCV001428341 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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