ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.54G>T (p.Gln18His)

gnomAD frequency: 0.00001  dbSNP: rs149348427
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183544 SCV000236013 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing Reported in a patient with sudden arrhythmogenic death syndrome (SADS) in the published literature, however this individual harbored additional cardiogenetic variants (Hata et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27005929)
Fulgent Genetics, Fulgent Genetics RCV000763672 SCV000894552 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000817342 SCV000957896 uncertain significance Myofibrillar myopathy 4 2023-09-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 18 of the LDB3 protein (p.Gln18His). This variant is present in population databases (rs149348427, gnomAD 0.008%). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 27005929). ClinVar contains an entry for this variant (Variation ID: 201856). 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. 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845500 SCV000987602 uncertain significance Primary familial dilated cardiomyopathy criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798640 SCV002043383 uncertain significance Cardiomyopathy 2021-04-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000183544 SCV003816500 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing

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