ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.659dup (p.Gln221fs)

dbSNP: rs2049106504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175604 SCV001339255 pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2024-02-21 criteria provided, single submitter clinical testing Variant summary: FOXP1 c.659dupC (p.Gln221SerfsX74) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251050 control chromosomes (gnomAD). To our knowledge, no occurrence of c.659dupC in individuals affected with Mental Retardation With Language Impairment And With Or Without Autistic Features and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 918163). Based on the evidence outlined above, the variant was classified as pathogenic.

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