ClinVar Miner

Submissions for variant NC_000018.9:g.(?_53070665)_(53070769_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963208 SCV002241948 pathogenic Pitt-Hopkins syndrome 2023-11-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the TCF4 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TCF4 are known to be pathogenic (PMID: 18728071, 22045651). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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