ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.990+1G>T

dbSNP: rs2145729217
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775439 SCV002012339 pathogenic Pitt-Hopkins syndrome 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). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Therefore, this variant is classified pathogenic according to the recommendation of ACMG/AMP guideline.

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