ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.764A>G (p.Lys255Arg)

gnomAD frequency: 0.00004  dbSNP: rs199739130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171993 SCV000050973 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001852092 SCV002197141 uncertain significance Myofibrillar myopathy 4 2023-04-01 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 191698). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs199739130, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 208 of the LDB3 protein (p.Lys208Arg).
Ambry Genetics RCV002390412 SCV002672835 uncertain significance Cardiovascular phenotype 2020-01-16 criteria provided, single submitter clinical testing The p.K255R variant (also known as c.764A>G), located in coding exon 5 of the LDB3 gene, results from an A to G substitution at nucleotide position 764. The lysine at codon 255 is replaced by arginine, an amino acid with highly similar properties. This variant was identified in one individual with dilated cardiomyopathy (Mook OR et al. J. Med. Genet., 2013 Sep;50:614-26). 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.

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