ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)

dbSNP: rs121909339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000008981 SCV000767982 pathogenic Axenfeld-Rieger syndrome type 3 2021-08-12 criteria provided, single submitter clinical testing
3billion RCV000008981 SCV002058717 pathogenic Axenfeld-Rieger syndrome type 3 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10% (PVS1_S). The variant was co-segregated with Axenfeld-Rieger syndrome, type 3 in multiple affected family members with additional meioses meeting moderate evidence levels (PMID: 18498376, PP1_M). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000008461, PMID:18498376). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000008981 SCV000029195 pathogenic Axenfeld-Rieger syndrome type 3 2008-11-01 no assertion criteria provided literature only

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