Submissions for variant NM_130837.3(OPA1):c.420G>T (p.Val140=)

gnomAD frequency: 0.00577  dbSNP: rs35801538

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081766	SCV000113701	benign	not specified	2013-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000081766	SCV000170832	benign	not specified	2013-06-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000081766	SCV000315384	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284097	SCV000442614	benign	Autosomal dominant optic atrophy classic form	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.
Invitae	RCV000676691	SCV001111361	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000676691	SCV001144793	benign	not provided	2018-10-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676691	SCV002544851	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	OPA1: BP4, BP7, BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000676691	SCV000802488	benign	not provided	2016-02-23	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081766	SCV001917183	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000676691	SCV001956809	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000676691	SCV001972507	likely benign	not provided		no assertion criteria provided	clinical testing