Submissions for variant NM_001614.5(ACTG1):c.414C>T (p.Ala138=)

dbSNP: rs143978597

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000155031	SCV000150145	likely benign	not specified	2015-07-23	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155031	SCV000204714	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala138Ala 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 0.1% (3/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs143978597).
GeneDx	RCV000680320	SCV000516201	benign	not provided	2018-02-28	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	RCV001086238	SCV001017146	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-01-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253220	SCV002524477	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253219	SCV002524478	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000680320	SCV004144615	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004549576	SCV004731996	likely benign	ACTG1-related disorder	2019-05-07	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).