ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385421 SCV001585258 pathogenic not provided 2020-07-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FOXP1 are known to be pathogenic (PMID: 28735298). This variant has not been reported in the literature in individuals with FOXP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp441Asnfs*32) in the FOXP1 gene. It is expected to result in an absent or disrupted protein product.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257016 SCV001433572 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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