ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.267C>T (p.Thr89=)

gnomAD frequency: 0.00006  dbSNP: rs140398667
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Total submissions: 3
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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 RCV000217614 SCV000269972 likely benign not specified 2016-01-28 criteria provided, single submitter clinical testing p.Thr89Thr in Exon 03 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 3/6614 Finnish chrom osomes and 1/66206 European chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org; dbSNP rs140398667).
GeneDx RCV001705191 SCV000714203 likely benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005222834 SCV005862355 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2025-01-23 criteria provided, single submitter clinical testing

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