ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1240_1241del (p.Leu414fs) (rs1064793130)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484956 SCV000565019 pathogenic not provided 2018-06-04 criteria provided, single submitter clinical testing The c.1240_1241delCT variant in the FOXP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1240_1241delCT variant causes a frameshift starting with codon Leucine 414, changes this amino acid to an Aspartic acid residue, and creates a premature Stop codon at position 46 of the new reading frame, denoted p.Leu414AspfsX46. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1240_1241delCT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1240_1241delCT as a pathogenic variant.

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