ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1486+5G>T

dbSNP: rs2144674947
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001563622 SCV001786598 likely pathogenic Pitt-Hopkins syndrome 2021-01-07 criteria provided, single submitter clinical testing The TCF4 c.1486+5G>T variant is a splice region variant. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the identification of the variant in a de novo state, its rarity, and application of ACMG criteria, the c.1486+5G>T variant is classified as likely pathogenic for Pitt-Hopkins syndrome.

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