ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1721-2A>G

dbSNP: rs2135143557
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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 RCV001789734 SCV002032063 pathogenic Brachyolmia-amelogenesis imperfecta syndrome criteria provided, single submitter clinical testing A homozygous splice site mutation, c.1721-2A>G, in splice site acceptor (SSA) region before exon 12 of LTBP3 gene was identified in a patient with dental anomalies and short stature (DASS). Her parents were heterozygous for the mutation (Intarak et. al. 2019).

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