ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1573C>T (p.Arg525Ter) (rs112795301)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory,University of Szeged RCV000005214 SCV000583530 pathogenic Mental retardation with language impairment and with or without autistic features 2017-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000760393 SCV000890265 pathogenic not provided 2019-02-07 criteria provided, single submitter clinical testing The R525X nonsense variant in the FOXP1 gene has been reported previously as a de novo variant in association with intellectual disability, severe language impairment, and autism (Hamdan et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R525X variant is not observed in large population cohorts (Lek et al., 2016). The R525X variant is considered a pathogenic variant.
OMIM RCV000005214 SCV000025392 pathogenic Mental retardation with language impairment and with or without autistic features 2010-11-12 no assertion criteria provided literature only

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