ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro)

gnomAD frequency: 0.00001  dbSNP: rs755329877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769284 SCV000900662 uncertain significance Cardiomyopathy 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV001242694 SCV001415797 uncertain significance Myofibrillar myopathy 4 2023-11-19 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.2, and corresponds to NM_001080116.1:c.*7278G>C, in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 340 of the LDB3 protein (p.Ala340Pro). This variant is present in population databases (rs755329877, gnomAD 0.005%). This missense change has been observed in individual(s) with idiopathic ventricular fibrillation and left ventricular noncompaction and Fabry disease (PMID: 21952291, 29032884). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004027219 SCV005025576 likely benign Cardiovascular phenotype 2024-03-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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