ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.714G>A (p.Lys238=) (rs11549173)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193902 SCV000246320 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000680344 SCV000526005 benign not provided 2016-06-29 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 RCV001078774 SCV000652320 benign Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000193902 SCV000710977 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Lys238Lys 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 1.0% (36/3736) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs11549173).
Athena Diagnostics Inc RCV000193902 SCV001475505 benign not specified 2020-07-09 criteria provided, single submitter clinical testing

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