Submissions for variant NM_001614.5(ACTG1):c.159C>T (p.Tyr53=)

gnomAD frequency: 0.00019  dbSNP: rs139751304

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155032	SCV000204716	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Tyr53Tyr in Exon 03 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 has been identified in 0.1% (4/3736) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs139751304).
GeneDx	RCV001651027	SCV001868771	benign	not provided	2019-03-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056070	SCV002416004	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253253	SCV002524497	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253252	SCV002524498	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing