ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)

gnomAD frequency: 0.00015  dbSNP: rs397517226
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639877 SCV000761460 uncertain significance Myofibrillar myopathy 4 2023-08-23 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 45556). This variant is also known as Arg276Cys. This variant is present in population databases (rs397517226, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 229 of the LDB3 protein (p.Arg229Cys).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000991353 SCV001142722 uncertain significance Hypertrophic cardiomyopathy 2020-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496619 SCV002775867 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380404 SCV004096674 uncertain significance Cardiovascular phenotype 2023-06-21 criteria provided, single submitter clinical testing The p.R276C variant (also known as c.826C>T), located in coding exon 5 of the LDB3 gene, results from a C to T substitution at nucleotide position 826. The arginine at codon 276 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in an individual with dilated cardiomyopathy; however, details were limited (Pugh TJ et al. Genet Med, 2014 Aug;16:601-8). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038770 SCV000062448 uncertain significance not specified 2009-04-20 no assertion criteria provided clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293339 SCV001481927 pathogenic Dilated cardiomyopathy 1C 2014-08-20 no assertion criteria provided case-control

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