Submissions for variant NM_001614.5(ACTG1):c.471C>T (p.Asp157=)

gnomAD frequency: 0.00264  dbSNP: rs11549222

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037124	SCV000060781	benign	not specified	2013-01-17	criteria provided, single submitter	clinical testing	Asp157Asp in exon 4 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and it has been identified in 0.5% (39/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs11549222)
Invitae	RCV000555623	SCV000652319	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000037124	SCV000728687	benign	not specified	2017-02-06	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.
Genome-Nilou Lab	RCV002253203	SCV002524475	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253202	SCV002524476	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002262601	SCV002545983	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7, BS1
Fulgent Genetics, Fulgent Genetics	RCV000555623	SCV002803740	likely benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2021-08-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002262601	SCV003799608	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549453	SCV004711145	benign	ACTG1-related disorder	2021-01-28	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).
Genetic Services Laboratory, University of Chicago	RCV000037124	SCV000150147	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.