ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.*4C>T

gnomAD frequency: 0.00012  dbSNP: rs774917687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173370 SCV000224474 likely benign not specified 2015-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001704247 SCV000517159 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316990 SCV000850963 uncertain significance Inborn genetic diseases 2016-03-14 criteria provided, single submitter clinical testing The c.*4C>T variant is located in the 3' untranslated region (3’ UTR) of the FOXG1 gene. This variant results from a C to T substitution the last translated codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. Based on data from ExAC, the T allele was reported in 32 of 120975 (0.03%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed March 14, 2016]). This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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