ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.1017G>C (p.Val339=)

gnomAD frequency: 0.00053  dbSNP: rs111305526
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000296619 SCV000342655 benign not specified 2016-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000874192 SCV000528804 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000296619 SCV001365607 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Val339Val in Exon 06 of ACTG1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.6% (22/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs111305526)."
Invitae RCV002059240 SCV002411392 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253374 SCV002524428 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253373 SCV002524429 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874192 SCV004144606 benign not provided 2022-09-01 criteria provided, single submitter clinical testing ACTG1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003930154 SCV004737857 likely benign ACTG1-related condition 2023-07-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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