ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.161G>A (p.Gly54Asp)

gnomAD frequency: 0.00001  dbSNP: rs375834889
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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 RCV002953383 SCV003273834 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 54 of the LTBP3 protein (p.Gly54Asp). This variant is present in population databases (rs375834889, gnomAD 0.02%). 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: 2062361). 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.

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