ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer)

dbSNP: rs1555764839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660296 SCV000782332 likely pathogenic Pitt-Hopkins syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660296 SCV001403679 pathogenic Pitt-Hopkins syndrome 2019-09-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TCF4 are known to be pathogenic (PMID: 18728071, 22045651). This variant has not been reported in the literature in individuals with TCF4-related conditions. ClinVar contains an entry for this variant (Variation ID: 547794). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu390*) in the TCF4 gene. It is expected to result in an absent or disrupted protein product.

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