ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.825C>T (p.His275=)

gnomAD frequency: 0.00017  dbSNP: rs145303691
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000680324 SCV000343797 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000680324 SCV000516391 benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000281379 SCV000710975 likely benign not specified 2016-05-28 criteria provided, single submitter clinical testing p.His275His in exon 05 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 7/10360 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145303691).
Invitae RCV003765664 SCV004583888 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549614 SCV004739575 likely benign ACTG1-related disorder 2022-12-22 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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