ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.436T>G (p.Leu146Val)

gnomAD frequency: 0.00153  dbSNP: rs146381591
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489452 SCV000577683 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30548430)
Invitae RCV000634564 SCV000755894 likely benign Aspartylglucosaminuria 2021-12-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000634564 SCV000782733 uncertain significance Aspartylglucosaminuria 2017-09-21 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000489452 SCV000856364 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000634564 SCV000930199 uncertain significance Aspartylglucosaminuria 2019-04-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000634564 SCV001306083 uncertain significance Aspartylglucosaminuria 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000634564 SCV001429165 uncertain significance Aspartylglucosaminuria 2016-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000634564 SCV001623489 uncertain significance Aspartylglucosaminuria 2021-05-18 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251883 SCV001427629 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000489452 SCV001798671 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000489452 SCV001965469 uncertain significance not provided no assertion criteria provided clinical testing

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