ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.491C>A (p.Pro164His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249679 SCV001423632 likely pathogenic Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 2018-09-25 criteria provided, single submitter clinical testing [ACMG/AMP: PS2, PM2, PP2, PP3] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3].

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