ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.684C>T (p.Ala228=)

gnomAD frequency: 0.00195  dbSNP: rs143125497
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Total submissions: 8
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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 RCV000155029 SCV000204712 benign not specified 2015-01-26 criteria provided, single submitter clinical testing p.Ala228Ala in exon 04 of ACTG1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (228/71802) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs143125497).
Genetic Services Laboratory, University of Chicago RCV000155029 SCV000246319 likely benign not specified 2017-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000155029 SCV000730810 benign not specified 2017-02-13 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.
Invitae RCV000873903 SCV001015995 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812133 SCV001157608 benign not provided 2019-07-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812133 SCV002498342 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ACTG1: BP4, BP7, BS1
Genome-Nilou Lab RCV002253249 SCV002524462 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253248 SCV002524463 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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