Submissions for variant NM_001614.5(ACTG1):c.825C>T (p.His275=)

gnomAD frequency: 0.00017  dbSNP: rs145303691

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000680324	SCV000343797	uncertain significance	not provided	2017-12-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000680324	SCV000516391	benign	not provided	2020-06-29	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000281379	SCV000710975	likely benign	not specified	2016-05-28	criteria provided, single submitter	clinical testing	p.His275His in exon 05 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 7/10360 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145303691).
Invitae	RCV003765664	SCV004583888	likely benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2023-11-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930168	SCV004739575	likely benign	ACTG1-related condition	2022-12-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).