ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.968+1G>A

dbSNP: rs1598620094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001028106 SCV001190892 pathogenic Intellectual disability, autosomal dominant 57 2019-10-24 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001095744 SCV001251586 likely pathogenic TLK2-related neurodevelopmental disorder 2020-01-27 criteria provided, single submitter clinical testing The TLK2 c.968+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the consequence of the variant and absence from population frequency databases, the c.968+1G>A variant is classified as likely pathogenic for TLK2-related neurodevelopmental disorder.

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