ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1504del (p.Gln502fs)

dbSNP: rs1555718426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524725 SCV000646113 pathogenic Pitt-Hopkins syndrome 2018-10-20 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: 22045651, 18728071). This variant has not been reported in the literature in individuals with a TCF4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln502Argfs*33) in the TCF4 gene. It is expected to result in an absent or disrupted protein product.

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