ClinVar Miner

Submissions for variant NM_032682.6(FOXP1):c.1348G>A (p.Ala450Thr) (rs1553668386)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523347 SCV000619822 likely pathogenic not provided 2017-08-14 criteria provided, single submitter clinical testing The c.1348G>A variant in the FOXP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1348G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In-silico splice models predict that c.1348G>A may destroy the natural splice donor site for exon 15 which is predicted to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of the c.1348G>A change in this individual is unknown. If c.1348G>A does not alter splicing, it will result in the A450T missense change. The A450T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret c.1348G>A as a likely pathogenic variant.

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