ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.501delinsTGTTGTTTT (p.Gln167fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004808518 SCV005431443 pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2024-12-13 criteria provided, single submitter clinical testing This variant was detected in a male with delayed psychomotor development, delayed speech and language development, facial abnormalities, strabism, cryptorchidism. The variant was confirmed to be of a de novo origin. Rare truncating variants affecting the FOXP1 gene are documented as a molecular cause of "intellectual developmental disorder with language impairment with or without autistic features" (IDDLA; OMIM:613670; PMID:28884888;25853299;20950788;26647308).To conclude, the variant is classified as pathogenic (ACMG PM2, PS2, PVS1).

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