Submissions for variant NM_170707.4(LMNA):c.1017G>A (p.Ala339=)

gnomAD frequency: 0.00021  dbSNP: rs17847242

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172001	SCV000050978	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Ambry Genetics	RCV000244350	SCV000319141	likely benign	Cardiovascular phenotype	2013-11-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga)	RCV000276961	SCV000341229	likely benign	not specified	2016-04-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000172001	SCV000513495	likely benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23861362, 19638735, 28679633)
Invitae	RCV001086138	SCV000559831	benign	Charcot-Marie-Tooth disease type 2	2024-01-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000276961	SCV000595593	likely benign	not specified	2016-06-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771177	SCV000903109	benign	Cardiomyopathy	2018-07-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172001	SCV001147459	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LMNA: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771177	SCV001333641	benign	Cardiomyopathy	2018-02-07	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172634	SCV001335697	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000276961	SCV004100125	benign	not specified	2023-09-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535167	SCV004720235	likely benign	LMNA-related disorder	2019-04-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000276961	SCV001922601	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172001	SCV001930758	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172001	SCV001958579	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172001	SCV001967091	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000172001	SCV002036965	likely benign	not provided		no assertion criteria provided	clinical testing