Submissions for variant NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)

gnomAD frequency: 0.34915  dbSNP: rs2292487

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081805	SCV000113740	benign	not specified	2012-07-18	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081805	SCV000269706	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	p.Lys227Lys in exon 8 of POMGNT1: This variant is not expected to have clinical significance because it has been identified in 35% (3000/8600) of European Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/; dbSNP rs2292487).
PreventionGenetics, part of Exact Sciences	RCV000081805	SCV000307105	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304915	SCV000357999	benign	Autosomal recessive limb-girdle muscular dystrophy type 2O	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000343385	SCV000358000	benign	Congenital Muscular Dystrophy, alpha-dystroglycan related	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000576556	SCV000677425	benign	not provided	2017-04-14	criteria provided, single submitter	clinical testing
Invitae	RCV001516894	SCV001725260	benign	Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533746	SCV001750535	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533747	SCV001750536	benign	Retinitis pigmentosa 76	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000576556	SCV001856491	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789144	SCV002031727	benign	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000304915	SCV002031728	benign	Autosomal recessive limb-girdle muscular dystrophy type 2O	2021-10-25	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888448	SCV004705233	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Genetic Services Laboratory, University of Chicago	RCV000081805	SCV000152348	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc.	RCV001275750	SCV001461199	benign	Muscle eye brain disease	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081805	SCV001742742	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081805	SCV001917028	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081805	SCV001965806	benign	not specified		no assertion criteria provided	clinical testing