ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)

dbSNP: rs2143526006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV002255775 SCV002526662 likely pathogenic Amelogenesis imperfecta type 1G criteria provided, single submitter clinical testing The heterozygous c.758A > G (p.Tyr253Cys) in FAM20A has been reported in a patient with amelogenesis imperfecta (Pt-1) and her unaffected father (Nitayavardhana 2020). This variant was identified in compound heterozygous with a large deletion involving exons 8–11 of FAM20A which was inherited from her unaffected mother.

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