ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3910_*6del (p.Ter1304del)

dbSNP: rs779871744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481729 SCV000572226 likely pathogenic not provided 2020-09-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Normal stop codon changed to an Arginine codon, leading to the addition of 9 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003754877 SCV004470758 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-07-26 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the LTBP3 mRNA. It is expected to extend the length of the LTBP3 protein by 9 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 422699). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions.

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