ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.530C>T (p.Ala177Val)

gnomAD frequency: 0.00004  dbSNP: rs397517224
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155606 SCV000205314 uncertain significance not specified 2013-10-15 criteria provided, single submitter clinical testing The Ala177Val variant in LDB3 has been identified by our laboratory in 1 Caucasi an individual with DCM and data from large population studies is insufficient to assess its frequency. Computational analyses (biochemical amino acid properties , conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support fo r or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Ala177Val variant.
Invitae RCV000701572 SCV000830379 uncertain significance Myofibrillar myopathy 4 2023-06-27 criteria provided, single submitter clinical testing 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: 178834). This missense change has been observed in individual(s) with left ventricular noncompaction (PMID: 28798025). This variant is present in population databases (rs397517224, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 177 of the LDB3 protein (p.Ala177Val). 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+1487C>T in the primary transcript.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770143 SCV000901569 uncertain significance Cardiomyopathy 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001566418 SCV001789931 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing Reported in one individual diagnosed with LVNC, although further clinical details and segregation studies were not reported (Miszalski-Jamka et al., 2017); Reported in ClinVar as a variant of uncertain significant (ClinVar Variant ID# 178834; Landrum et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28798025)

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