ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3900G>C (p.Gln1300His)

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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 RCV002591974 SCV003498777 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1300 of the LTBP3 protein (p.Gln1300His). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 2182360). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
PreventionGenetics, part of Exact Sciences RCV003410108 SCV004113624 uncertain significance LTBP3-related disorder 2023-05-10 criteria provided, single submitter clinical testing The LTBP3 c.3900G>C variant is predicted to result in the amino acid substitution p.Gln1300His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0063% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-65306563-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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