ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.1172_1175del (p.Leu391fs)

dbSNP: rs2037949810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214347 SCV001386024 pathogenic not provided 2019-07-04 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: 20950788, 26647308). 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.Leu391Profs*23) in the FOXP1 gene. It is expected to result in an absent or disrupted protein product.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002272411 SCV002558006 pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2020-05-26 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 15 of 21). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants also predicted to result in NMD, have very strong previous evidence for pathogenicity (Decipher, PMID: 28735298). (P) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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