Submissions for variant NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)

gnomAD frequency: 0.00224  dbSNP: rs74550830

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153443	SCV000202944	benign	not specified	2014-01-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891688	SCV000310636	benign	LARGE1-related disorder	2019-09-23	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	RCV000328489	SCV000438152	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	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.
Illumina Laboratory Services, Illumina	RCV001079471	SCV000438153	uncertain significance	Muscular dystrophy-dystroglycanopathy type B6	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.
GeneDx	RCV000710158	SCV000513463	likely benign	not provided	2020-06-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153443	SCV000595558	likely benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710158	SCV000613994	benign	not provided	2017-11-16	criteria provided, single submitter	clinical testing
Invitae	RCV001079471	SCV000638981	benign	Muscular dystrophy-dystroglycanopathy type B6	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710158	SCV003916363	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	LARGE1: BP4, BP7