ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)

dbSNP: rs797044730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178166 SCV000230176 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001267567 SCV001445749 uncertain significance Inborn genetic diseases 2016-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000178166 SCV001831859 pathogenic not provided 2022-07-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); The majority of missense variants in this gene are considered pathogenic (HGMD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 35054877)
Mendelics RCV002247591 SCV002516211 likely pathogenic Autosomal dominant nonsyndromic hearing loss 20 2022-05-04 criteria provided, single submitter clinical testing

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