ClinVar Miner

Submissions for variant NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter)

dbSNP: rs104894516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000007671 SCV002318640 likely pathogenic Distichiasis-lymphedema syndrome 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region.. This variant has been reported as pathogenic (ClinVar ID: VCV000007249, PMID:11078474).It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000007671 SCV000027872 pathogenic Distichiasis-lymphedema syndrome 2000-12-01 no assertion criteria provided literature only

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