ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.257T>G (p.Leu86Arg)

dbSNP: rs2065171820
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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 RCV001249627 SCV001423703 pathogenic Microphthalmia, syndromic 1; Ogden syndrome 2018-04-04 criteria provided, single submitter clinical testing [ACMG/AMP: PS2, PM1, PM2, PP2, PP3] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is located in a mutational hotspot and/or critical and well-established functional domain [PM1], 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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