ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.796C>T (p.Arg266Cys)

gnomAD frequency: 0.00001  dbSNP: rs776803568
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048837 SCV001212861 uncertain significance Myofibrillar myopathy 4 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 219 of the LDB3 protein (p.Arg219Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 845719). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 RCV002409421 SCV002675759 uncertain significance Cardiovascular phenotype 2022-11-20 criteria provided, single submitter clinical testing The p.R266C variant (also known as c.796C>T), located in coding exon 5 of the LDB3 gene, results from a C to T substitution at nucleotide position 796. The arginine at codon 266 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, cysteine is the reference amino acid in other 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.
Revvity Omics, Revvity Omics RCV001580026 SCV003816515 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580026 SCV001809420 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001580026 SCV001957395 uncertain significance not provided no assertion criteria provided clinical testing

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