ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter)

gnomAD frequency: 0.00001  dbSNP: rs771316707
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814778 SCV000955203 uncertain significance Myofibrillar myopathy 4 2023-10-18 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.*33537C>T in the primary transcript. This sequence change creates a premature translational stop signal (p.Gln707*) in the LDB3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acid(s) of the LDB3 protein. This variant is present in population databases (rs771316707, gnomAD 0.01%). 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170185 SCV001332735 uncertain significance Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223951 SCV002502152 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422817 SCV002727073 uncertain significance Cardiovascular phenotype 2020-06-08 criteria provided, single submitter clinical testing The p.Q707* variant (also known as c.2119C>T), located in coding exon 13 of the LDB3 gene, results from a C to T substitution at nucleotide position 2119. This changes the amino acid from a glutamine to a stop codon within coding exon 13. Premature stop codons are typically deleterious in nature; however, this stop codon occurs at the 3' terminus of LDB3, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 21 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time. In addition, loss of function of LDB3 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002223951 SCV004036708 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing Reported using an alternate transcript of the gene; Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation as the last 21 amino acids are lost

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