Submissions for variant NM_001386795.1(DTNA):c.243A>G (p.Leu81=)

gnomAD frequency: 0.00285  dbSNP: rs146923532

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039683	SCV000063372	benign	not specified	2012-08-13	criteria provided, single submitter	clinical testing	Leu81Leu in Exon 05 of DTNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 0.6% (44/7020) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs146923532).
GeneDx	RCV000039683	SCV000168278	benign	not specified	2014-04-10	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227300	SCV000291149	benign	Left ventricular noncompaction 1	2024-01-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000227300	SCV001473020	benign	Left ventricular noncompaction 1	2023-08-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039683	SCV001478611	benign	not specified	2021-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528307	SCV001746543	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	DTNA: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV000227300	SCV002797427	benign	Left ventricular noncompaction 1	2021-08-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528307	SCV001739829	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039683	SCV001957492	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528307	SCV001964530	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003964869	SCV004793661	benign	DTNA-related disorder	2021-05-26	no assertion criteria provided	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).