ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.560dup (p.Ser188fs)

dbSNP: rs2146265828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775344 SCV002012157 likely pathogenic Pitt-Hopkins syndrome 2021-10-02 criteria provided, single submitter clinical testing Frameshift: predicted to 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.

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