ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1034del (p.Pro345fs)

dbSNP: rs1568509890
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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 RCV000680119 SCV000807561 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 3-year-old female with profound global delays, hypotonia, spasticity, abnormal movements, dysmorphisms, microcephaly, hyperextensibility, failure to thrive, structural brain abnormalities, scoliosis.

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