ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002442075 SCV002749175 uncertain significance Cardiovascular phenotype 2019-07-12 criteria provided, single submitter clinical testing The p.P99L variant (also known as c.296C>T), located in coding exon 3 of the LDB3 gene, results from a C to T substitution at nucleotide position 296. The proline at codon 99 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003234202 SCV003931110 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV003775433 SCV004684818 uncertain significance Myofibrillar myopathy 4 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1798261). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs148638169, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 99 of the LDB3 protein (p.Pro99Leu). 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.

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