ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.237_239del (p.Pro80del)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV004584233 SCV005068296 benign FOXG1 disorder 2024-06-25 reviewed by expert panel curation The highest population minor allele frequency of the c.237_239del (p.Pro80del) variant in FOXG1 in gnomAD v4.1 is 0.00054 in the East Asian population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (>=0.0003) for BA1, and therefore meets this criterion (BA1). The p.Pro80del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3). In summary, the p.Pro80del variant in FOXG1 is classified as a benign variant based on the ACMG/AMP criteria (BA1, BP3).
Ambry Genetics RCV002457762 SCV002735857 likely benign Inborn genetic diseases 2017-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101766 SCV002982624 uncertain significance Rett syndrome, congenital variant 2022-09-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.237_239del, results in the deletion of 1 amino acid(s) of the FOXG1 protein (p.Pro80del), but otherwise preserves the integrity of the reading frame.

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