ClinVar Miner

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

gnomAD frequency: 0.01161  dbSNP: rs11549220
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Total submissions: 9
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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 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
Invitae RCV001518554 SCV001727271 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-31 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
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

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