ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.803G>A (p.Arg268His)

gnomAD frequency: 0.00001  dbSNP: rs751981682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037886 SCV001201321 uncertain significance Myofibrillar myopathy 4 2023-06-13 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 836699). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs751981682, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 268 of the LDB3 protein (p.Arg268His).
Ambry Genetics RCV002409374 SCV002675553 uncertain significance Cardiovascular phenotype 2018-03-06 criteria provided, single submitter clinical testing The p.R268H variant (also known as c.803G>A), located in coding exon 8 of the LDB3 gene, results from a G to A substitution at nucleotide position 803. The arginine at codon 268 is replaced by histidine, an amino acid with highly similar properties. An alternate amino acid substitution p.R268C has been reported in an individual with later age of onset myofibrillar myopathy without cardiac involvement (Selcen D et al. Ann. Neurol., 2005 Feb;57:269-76). This amino acid position is 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.
Revvity Omics, Revvity RCV003132150 SCV003816491 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing

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