ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter)

dbSNP: rs727505396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000157067 SCV000646110 pathogenic Pitt-Hopkins syndrome 2016-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in TCF4 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with Pitt-Hopkins syndrome (PMID: 22045651). This sequence change creates a premature translational stop signal at codon 480 (p.Gln480*) of the TCF4 gene. It is expected to result in an absent or disrupted protein product.
Mendelics RCV000157067 SCV000206779 pathogenic Pitt-Hopkins syndrome 2013-08-30 no assertion criteria provided clinical testing

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