Submissions for variant NM_001614.5(ACTG1):c.774G>A (p.Pro258=)

gnomAD frequency: 0.00053  dbSNP: rs61997068

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221687	SCV000269976	likely benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing	p.Pro258Pro in exon 4 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 65/65542 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs61997068).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078583	SCV001015831	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-11-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000873773	SCV001142906	benign	not provided	2018-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000873773	SCV001843755	benign	not provided	2019-10-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253301	SCV002524451	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253300	SCV002524452	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000873773	SCV004144608	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7, BS1