Submissions for variant NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)

gnomAD frequency: 0.00078  dbSNP: rs60662302

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041334	SCV000065027	likely benign	not specified	2012-04-18	criteria provided, single submitter	clinical testing	The Gly602Ser variant (LMNA) has been reported in two individuals with varying c linical features (type A insulin resistance syndrome and Emery Dreifuss muscular dystrophy; Young 2005, Scharner 2011). However, this variant is not expected t o have clinical significance because glycine at position 602 is not conserved in mammals and this variant has been identified in 0.3% (11/3730) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs60662302).
CSER _CC_NCGL, University of Washington	RCV000148601	SCV000190316	uncertain significance	Insulin-resistant diabetes mellitus AND acanthosis nigricans	2014-06-01	criteria provided, single submitter	research	Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Eurofins Ntd Llc (ga)	RCV000057361	SCV000225441	uncertain significance	not provided	2018-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000057361	SCV000520583	likely benign	not provided	2021-02-05	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 16218190, 25637381, 20848652, 16478798, 15919811, 23785128, 28663758)
Invitae	RCV001088263	SCV000559823	likely benign	Charcot-Marie-Tooth disease type 2	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617798	SCV000736327	likely benign	Cardiovascular phenotype	2018-11-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health	RCV000771799	SCV000904496	likely benign	Cardiomyopathy	2018-08-27	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000057361	SCV003816994	likely benign	not provided	2023-09-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541208	SCV004794418	likely benign	LMNA-related disorder	2022-05-17	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).
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057361	SCV000088474	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000057361	SCV001920405	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000057361	SCV001926622	likely benign	not provided		no assertion criteria provided	clinical testing