Submissions for variant NM_001614.5(ACTG1):c.531T>C (p.Arg177=)

gnomAD frequency: 0.00106  dbSNP: rs143851458

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037125	SCV000060782	likely benign	not specified	2015-05-12	criteria provided, single submitter	clinical testing	p.Arg177Arg in exon 04 of ACTG1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (95/65398) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs143851458).
Genetic Services Laboratory, University of Chicago	RCV000037125	SCV000246318	likely benign	not specified	2017-05-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000680329	SCV000518618	benign	not provided	2016-09-27	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	RCV001086558	SCV001019885	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-01-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253205	SCV002524470	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253204	SCV002524471	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000680329	SCV004144614	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7