Submissions for variant NM_001614.5(ACTG1):c.546C>T (p.Gly182=)

gnomAD frequency: 0.00023  dbSNP: rs61997063

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155030	SCV000204713	likely benign	not specified	2015-11-25	criteria provided, single submitter	clinical testing	p.Gly182Gly 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. It has been identified in 23/65430 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org;dbSNP rs61997063).
GeneDx	RCV000680356	SCV000528765	benign	not provided	2017-12-14	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.
Invitae	RCV001088235	SCV001016966	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253251	SCV002524468	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253250	SCV002524469	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000680356	SCV004010581	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7