ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.443G>T (p.Gly148Val)

dbSNP: rs781726187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324620 SCV001515580 uncertain significance Rett syndrome, congenital variant 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 148 of the FOXG1 protein (p.Gly148Val). This variant is present in population databases (rs781726187, gnomAD 0.005%). This missense change has been observed in individual(s) with clinical features of FOXG1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1024440). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FOXG1 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV003166900 SCV003903241 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.443G>T (p.G148V) alteration is located in exon 1 (coding exon 1) of the FOXG1 gene. This alteration results from a G to T substitution at nucleotide position 443, causing the glycine (G) at amino acid position 148 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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