Submissions for variant NM_006852.6(TLK2):c.1550+1G>A

dbSNP: rs2147105351

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001557150	SCV001778861	pathogenic	not provided	2021-11-23	criteria provided, single submitter	clinical testing	Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29861108)
3billion, Medical Genetics	RCV001775176	SCV002012167	likely pathogenic	Intellectual disability, autosomal dominant 57	2021-10-02	criteria provided, single submitter	clinical testing	Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Revvity Omics, Revvity	RCV001775176	SCV002018976	pathogenic	Intellectual disability, autosomal dominant 57	2021-03-11	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001775176	SCV002559212	pathogenic	Intellectual disability, autosomal dominant 57		criteria provided, single submitter	clinical testing