Submissions for variant NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)

gnomAD frequency: 0.00578  dbSNP: rs72554028

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703427	SCV000170766	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22995991, 20981092, 19464101, 24376681, 27884173, 27535533)
Genetic Services Laboratory, University of Chicago	RCV000146753	SCV000194072	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146753	SCV000203112	benign	not specified	2013-12-02	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000146753	SCV000257960	benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227846	SCV000288519	benign	Atrial septal defect 7	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146753	SCV000310341	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000146753	SCV000539899	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 70/13004=0.53%
Ambry Genetics	RCV000618622	SCV000735054	likely benign	Cardiovascular phenotype	2015-05-04	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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258246	SCV001435160	benign	Lissencephaly due to TUBA1A mutation		criteria provided, single submitter	research	The heterozygous c.543G>A (p.Gln181=) variant in NKX2-5 has been identified in at least 2 individuals with cardiac disease (PMID: 19464101, 24376681) but has also been identified in >1% of South Asian chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for cardiac disease.
CeGaT Center for Human Genetics Tuebingen	RCV001703427	SCV004158040	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NKX2-5: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001703427	SCV004563905	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001703427	SCV005222012	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030337	SCV000053004	benign	Atrial septal defect	2015-01-07	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000146753	SCV001918580	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000146753	SCV001928440	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000146753	SCV001971151	benign	not specified		no assertion criteria provided	clinical testing