ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1937del (p.Gly646fs)

dbSNP: rs1347418307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943259 SCV002179192 pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2025-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly646Alafs*16) 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 0.001%). 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: 1412679). For these reasons, this variant has been classified as Pathogenic.

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