ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1816C>T (p.Arg606Ter) (rs281865469)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523815 SCV000617313 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing The R606X variant in the KANSL1 gene has been reported previously as a de novo variant in an individual with intellectual disability, hypotonia, and friendly behavior (Zollino et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R606X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R606X as a pathogenic variant.
SIB Swiss Institute of Bioinformatics RCV000024371 SCV000994930 pathogenic Koolen-de Vries syndrome 2019-06-05 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Koolen-De Vries syndrome, autosomal dominant. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6: Assumed de novo, but without confirmation of paternity and maternity. PVS1: Predicted nullvariant in a gene where LOF is a known mechanism of disease.
OMIM RCV000024371 SCV000045664 pathogenic Koolen-de Vries syndrome 2012-04-29 no assertion criteria provided literature only
GeneReviews RCV000024371 SCV000055761 pathologic Koolen-de Vries syndrome 2012-11-20 no assertion criteria provided curation Converted during submission to Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001255390 SCV001431790 pathogenic Global developmental delay 2019-11-01 no assertion criteria provided clinical testing

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