ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.141CCA[10] (p.His55_His57dup)

dbSNP: rs587783630
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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 RCV001507068 SCV001712041 uncertain significance FOXG1 disorder 2021-03-26 reviewed by expert panel curation The p.His55_His57dup variant in FOXG1 has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with clinical features of FOXG1 disorder (internal database, GeneDx) (PM6). The p.His55_His57dup variant in FOXG1 is absent in gnomAD (PM2_supporting). The p.His55_His57dup variant is an in-frame deletion/duplication present in a repetitive region of FOXG1 (BP3). In summary, the p.His55_His57dup variant in FOXG1 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM6, PM2_supporting, BP3).
GeneDx RCV001587440 SCV001826093 uncertain significance not provided 2021-03-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame insertion of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002564189 SCV003195495 uncertain significance Rett syndrome, congenital variant 2022-05-31 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. ClinVar contains an entry for this variant (Variation ID: 1162244). 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.153_161dup, results in the insertion of 3 amino acid(s) of the FOXG1 protein (p.His55_His57dup), but otherwise preserves the integrity of the reading frame.

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