ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup)

dbSNP: rs2135114515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898331 SCV002160758 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-06-10 criteria provided, single submitter clinical testing This variant, c.3877_3909dup, results in the insertion of 11 amino acid(s) of the LTBP3 protein (p.Pro1293_Arg1303dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 1393598). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV001898331 SCV002517314 likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV003327531 SCV004034766 pathogenic not provided 2024-05-17 criteria provided, single submitter clinical testing In-frame duplication of 11 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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