ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)

gnomAD frequency: 0.04188  dbSNP: rs1139807
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116228 SCV000150140 benign not specified 2013-02-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000116228 SCV000196993 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ser338Ser in Exon 06 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 8.3% (310/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs1139807)."
GeneDx RCV000116228 SCV000516205 benign not specified 2015-11-13 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 Inc RCV000710405 SCV000840617 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV001512128 SCV001719478 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253212 SCV002524430 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253211 SCV002524431 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+ RCV000116228 SCV001955198 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710405 SCV001971223 likely benign not provided no assertion criteria provided clinical testing

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