ClinVar Miner

Submissions for variant NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter)

dbSNP: rs561588576
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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 RCV001807869 SCV002058096 pathogenic Amelogenesis imperfecta type 1H criteria provided, single submitter clinical testing The heterozygous nonsense mutation c.625G>T p.(Gly209Ter) in ITGB6 (NM_000888.5) was identified in a patient with autosomal recessive amelogenesis imperfecta who also harbored heterozygous splice site variant c.1661-3C>G. A homozygous nonsense mutation in ITGB6 was previously reported in a patient with with hypoplastic amelogenesis imperfecta (Wang el al., 2014). This variant was classified as pathogenic by ACMG guidelines.

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