Submissions for variant NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)

gnomAD frequency: 0.00250  dbSNP: rs150576537

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081803	SCV000113738	benign	not specified	2013-10-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528294	SCV000307104	benign	POMGNT1-related disorder	2021-02-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000312026	SCV000358005	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.
Illumina Laboratory Services, Illumina	RCV000369008	SCV000358006	uncertain significance	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, 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	RCV000710196	SCV000518288	likely benign	not provided	2020-07-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081803	SCV000596514	benign	not specified	2019-03-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710196	SCV000614742	benign	not provided	2018-03-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079365	SCV000649967	benign	Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000667593	SCV000792071	likely benign	Muscle eye brain disease	2017-06-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710196	SCV001147278	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	POMGNT1: BS2
Genome-Nilou Lab	RCV001449947	SCV001653442	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	2021-05-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710196	SCV001932188	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710196	SCV001974188	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000667593	SCV002090232	benign	Muscle eye brain disease	2019-10-21	no assertion criteria provided	clinical testing