Submissions for variant NM_170707.4(LMNA):c.1770C>T (p.Thr590=)

gnomAD frequency: 0.00006  dbSNP: rs397517896

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219715	SCV000270362	likely benign	not specified	2015-02-03	criteria provided, single submitter	clinical testing	p.Thr590Thr in exon 11 of LMNA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Eurofins Ntd Llc (ga)	RCV000219715	SCV000345080	likely benign	not specified	2016-08-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001705194	SCV000513500	likely benign	not provided	2021-04-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28679633)
Invitae	RCV000459717	SCV000559817	likely benign	Charcot-Marie-Tooth disease type 2	2024-01-24	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173402	SCV001336490	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001189149	SCV001356375	likely benign	Cardiomyopathy	2018-10-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399784	SCV002714745	likely benign	Cardiovascular phenotype	2018-08-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705194	SCV004124996	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	LMNA: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003929890	SCV004738348	likely benign	LMNA-related condition	2019-09-17	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).