ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2788G>C (p.Asp930His)

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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 RCV003081193 SCV003456317 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 930 of the LTBP3 protein (p.Asp930His). This variant is present in population databases (rs748291285, gnomAD 0.002%). 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: 2148616). 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.
Ambry Genetics RCV004642123 SCV005136921 uncertain significance Inborn genetic diseases 2024-05-25 criteria provided, single submitter clinical testing The p.D930H variant (also known as c.2788G>C), located in coding exon 20 of the LTBP3 gene, results from a G to C substitution at nucleotide position 2788. The aspartic acid at codon 930 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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