ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)

dbSNP: rs1553697341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522651 SCV000621668 likely pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing The c.3459_3461delCTT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.3459_3461delCTT variant results in an in-frame deletion of a single Phenylalanine residue, denoted p.Phe1154del. Other in-frame deletions or missense variants have not been reported at nearby residues in the Human Gene Mutation Database (Stenson et al., 2014).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000576662 SCV000677108 likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2017-11-09 criteria provided, single submitter research

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