ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.380G>A (p.Arg127Lys)

gnomAD frequency: 0.00001  dbSNP: rs1365412037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002170332 SCV002333230 uncertain significance Myofibrillar myopathy 4 2023-05-23 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.321+1337G>A in the primary transcript. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1543711). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 127 of the LDB3 protein (p.Arg127Lys).
Ambry Genetics RCV002352790 SCV002622820 uncertain significance Cardiovascular phenotype 2021-12-16 criteria provided, single submitter clinical testing The p.R127K variant (also known as c.380G>A), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 380. The arginine at codon 127 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. 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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