ClinVar Miner

Submissions for variant NM_006147.4(IRF6):c.1175T>G (p.Val392Gly)

dbSNP: rs1553247688
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pharmacology and Genetics Laboratory, Bauru School of Dentistry, University of Sao Paulo RCV000677190 SCV000803306 uncertain significance Orofacial cleft 10 no assertion criteria provided case-control In silico analysis revealed polyphen prediction probably damage with polyphen score 1.000. Provean protein Batch - SIFT was predicted as damaging with score 0.004. Mutation tester predicted disease causing. This rare variation was found just in a patient witn cleft with dental agenesis and was not found in Brazillian control population without craniofacial anomalies.

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