ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2135A>G (p.Lys712Arg)

gnomAD frequency: 0.00001  dbSNP: rs1451712853
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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 RCV002019917 SCV002292064 uncertain significance Myofibrillar myopathy 4 2024-03-28 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.*33553A>G in the primary transcript. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 712 of the LDB3 protein (p.Lys712Arg). This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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 RCV004046021 SCV003586520 uncertain significance Cardiovascular phenotype 2023-11-10 criteria provided, single submitter clinical testing The p.K712R variant (also known as c.2135A>G), located in coding exon 13 of the LDB3 gene, results from an A to G substitution at nucleotide position 2135. The lysine at codon 712 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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