ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1717_1722+5del (rs1553660890)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599485 SCV000710788 pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing The c.1717_1722+5del11 variant in the FOXP1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant results in the deletion of 11 nucleotides spanning the junction of exon 19 and intron 19 and is expected to destroy the canonical splice donor site in intron 19, leading to abnormal gene splicing. Furthermore, the c.1717_1722+5del11 variant is not observed in large population cohorts (Lek et al., 2016). Therefore, we interpret c.1717_1722+5del11 as a pathogenic variant, and its presence is consistent with the diagnosis of a FOXP1-related disorder in this individual.

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