Submissions for variant NM_001614.5(ACTG1):c.165C>T (p.Gly55=)

gnomAD frequency: 0.00006  dbSNP: rs146402466

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606842	SCV000728812	benign	not specified	2017-01-25	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	RCV000876318	SCV001018877	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2023-12-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253527	SCV002524495	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253526	SCV002524496	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002275090	SCV002563448	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ACTG1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003945542	SCV004758407	likely benign	ACTG1-related condition	2019-12-30	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).