Submissions for variant NM_001614.5(ACTG1):c.558C>T (p.Thr186=)

dbSNP: rs142893042

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000680321	SCV000516202	benign	not provided	2016-12-09	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.
Genetic Services Laboratory, University of Chicago	RCV000438762	SCV000593025	likely benign	not specified	2016-04-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000438762	SCV000710978	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Thr186Thr in Exon 04 of ACTG1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.9% (71/3736) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142893042).
Invitae	RCV001078888	SCV001015745	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-01-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000680321	SCV001142903	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253420	SCV002524466	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253419	SCV002524467	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551436	SCV004724078	benign	ACTG1-related disorder	2019-08-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).