Submissions for variant NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)

gnomAD frequency: 0.00264  dbSNP: rs17102066

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000267239	SCV000331162	benign	not specified	2016-01-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268124	SCV000357984	likely benign	Congenital Muscular Dystrophy, alpha-dystroglycan related	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000354770	SCV000357986	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2O	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.
GeneDx	RCV000548277	SCV000565427	likely benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26206375)
Genetic Services Laboratory, University of Chicago	RCV000267239	SCV000596515	likely benign	not specified	2019-04-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084521	SCV000649959	benign	Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000548277	SCV001145188	likely benign	not provided	2019-03-22	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333958	SCV001526677	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	2018-02-26	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Clinical Genetics, Academic Medical Center	RCV000548277	SCV002034499	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000548277	SCV002037834	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833303	SCV002089598	benign	Muscle eye brain disease	2019-10-22	no assertion criteria provided	clinical testing