ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.780G>A (p.Ala260=)

gnomAD frequency: 0.00287  dbSNP: rs140846345
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608355 SCV000728689 benign not specified 2017-08-01 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608355 SCV000967132 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala260Ala in Exon 04 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 0.2% (11/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140846345).
Invitae RCV000878949 SCV001021942 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253525 SCV002524448 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253524 SCV002524449 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420067 SCV004144607 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ACTG1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV004547747 SCV004752817 benign ACTG1-related disorder 2022-04-04 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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