ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1292del (p.Gly431fs)

dbSNP: rs1568471940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680120 SCV000807562 pathogenic Pitt-Hopkins syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 17-year-old female with intellectual disability, seizures, dysmorphisms, microcephaly, wide-based gait.

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