ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.1547del (p.Asn516fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785051 SCV005397511 likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2023-06-12 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide deletion (delT) in exon 18 of 21 of the FOXP1 gene and results in an early termition codon 11 amino acids downstream of the frameshift at Asn516. This variant is predicted to generate a non-functiol allele through either the expression of a truncated protein or a loss of FOXP1 expression due to nonsense mediated decay. This is a novel variant that is absent from ClinVar and has not been observed in the literature in individuals with FOXP1-related disorders, to our knowledge. This variant is absent from the gnomAD population database (0/~250,000 alleles). Haploinsufficiency in FOXP1 is a known mechanism of disease. Based upon the evidence, we consider this variant to be likely pathogenic. ACMG Criteria: PM2, PVS1

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