Submissions for variant NM_001614.5(ACTG1):c.177G>A (p.Gln59=)

gnomAD frequency: 0.01161  dbSNP: rs11549220

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037122	SCV000060779	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Gln59Gln in Exon 03 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 1.5% (105/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs11549220)."
Genetic Services Laboratory, University of Chicago	RCV000037122	SCV000150143	benign	not specified	2013-02-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000037122	SCV000516200	benign	not specified	2015-11-09	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.
Athena Diagnostics	RCV000991477	SCV001142901	benign	not provided	2019-03-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518554	SCV001727271	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253201	SCV002524492	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253200	SCV002524493	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991477	SCV005253909	benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037122	SCV001952645	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000991477	SCV001974722	likely benign	not provided		no assertion criteria provided	clinical testing