ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3342dup (p.Gly1115fs)

dbSNP: rs1363345814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049317 SCV002116640 pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2024-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1115Argfs*97) in the LTBP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LTBP3 are known to be pathogenic (PMID: 11790802, 19344874, 25669657). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1351824). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV002049317 SCV005442045 pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2024-12-19 criteria provided, single submitter clinical testing

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