ClinVar Miner

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

gnomAD frequency: 0.00019  dbSNP: rs139751304
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Total submissions: 5
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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
Invitae RCV002056070 SCV002416004 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-22 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

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