ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter)

dbSNP: rs1555669421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001268407 SCV000681240 pathogenic not provided 2020-03-25 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 53 amino acids are lost, and other loss-of-function variants have been reported downstream at GeneDx and in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27479843, 29861108)
SIB Swiss Institute of Bioinformatics RCV000663347 SCV000883264 uncertain significance Intellectual disability, autosomal dominant 57 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Mental retardation, autosomal dominant 57. 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 (https://www.ncbi.nlm.nih.gov/pubmed/27479843) (https://www.ncbi.nlm.nih.gov/pubmed/29861108).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268407 SCV001447318 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000663347 SCV000786618 pathogenic Intellectual disability, autosomal dominant 57 2022-04-29 no assertion criteria provided literature only

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