Submissions for variant NM_001103.4(ACTN2):c.-3G>T

gnomAD frequency: 0.00009  dbSNP: rs201920417

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150144	SCV000197007	uncertain significance	not specified	2015-03-24	criteria provided, single submitter	clinical testing	The c.-3G>T variant in ACTN2 has been previously identified by our laboratory in 2 Ashkenazi Jewish adults with HCM. It has also been identified in 10/64028 Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs201920417). This variant is located in the 5' UTR and is pa rt of the translation initiation (Kozak) sequence, but its effect on translation is unknown. In summary, the clinical significance of the c.-3G>T variant is unc ertain.
Illumina Laboratory Services, Illumina	RCV000354213	SCV000355882	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001719928	SCV000724018	likely benign	not provided	2024-10-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170230	SCV001332790	likely benign	Cardiomyopathy	2020-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371994	SCV002624453	likely benign	Cardiovascular phenotype	2019-02-25	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.