ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.638-9_638-5del (rs1555984064)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000576181 SCV000677027 pathogenic Mental retardation, autosomal dominant 7 2019-01-09 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the DYRK1A gene. It does not directly change the encoded amino acid sequence of the DYRK1A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in 2 individuals affected with DYRK1A-related disease (PMID: 25707398, Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000576181 SCV001423647 likely pathogenic Mental retardation, autosomal dominant 7 2019-01-18 criteria provided, single submitter clinical testing [ACMG/AMP: PS2, PM2, PP5] 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], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5].
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000576181 SCV001432317 likely pathogenic Mental retardation, autosomal dominant 7 no assertion criteria provided clinical testing

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