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

gnomAD frequency: 0.00188  dbSNP: rs146381591

Total submissions: 11

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)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000634564	SCV000755894	likely benign	Aspartylglucosaminuria	2025-01-27	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