ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.269_271del (p.Phe90del)

dbSNP: rs1554329546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578326 SCV000680135 likely pathogenic Baraitser-Winter syndrome 1 2017-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553292 SCV004110231 uncertain significance ACTB-related disorder 2023-03-28 criteria provided, single submitter clinical testing The ACTB c.269_271delTCT variant is predicted to result in an in-frame deletion (p.Phe90del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic by a single laboratory in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/488462/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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