ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)

dbSNP: rs281865469
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523815 SCV000617313 pathogenic not provided 2021-12-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22544367, 26293599)
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.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001255390 SCV001431790 pathogenic Global developmental delay 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV000024371 SCV002180647 pathogenic Koolen-de Vries syndrome 2021-08-20 criteria provided, single submitter clinical testing
OMIM RCV000024371 SCV000045664 pathogenic Koolen-de Vries syndrome 2012-04-29 no assertion criteria provided literature only
GeneReviews RCV000024371 SCV000055761 not provided Koolen-de Vries syndrome no assertion provided literature only

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