ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.1078_1079del (p.Glu360fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002284320 SCV002570159 likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2022-09-12 criteria provided, single submitter clinical testing The variant c.1078_1079del (p.(Glu360Thrfs*100)) in exon 14 of the FOXP1 gene is not found in the gnomAD database and it creates a frame shift starting at codon Glu360. The new reading frame ends in a STOP codon at position 100. ACMG criteria used for classification: PVS1, PM2.

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