ClinVar Miner

Submissions for variant NM_000888.5(ITGB6):c.1661-3C>G

dbSNP: rs1683256077
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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 RCV001807870 SCV002058097 likely pathogenic Amelogenesis imperfecta type 1H criteria provided, single submitter clinical testing The heterozygous splice site variant c.1661-3C>G in ITGB6 (NM_000888.5) was identified in a patient with autosomal recessive amelogenesis imperfecta who also harbored heterozygous nonsense mutation c.625G>T p.(Gly209Ter). The c.1661-3C>G variant was inherited from his unaffected father and predicted to cause alteration to WT splice acceptor site. This variant was classified as likely pathogenic by ACMG guidelines.

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