ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.356C>T (p.Ala119Val)

gnomAD frequency: 0.00002  dbSNP: rs397517223
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767123 SCV000235989 uncertain significance not provided 2020-09-23 criteria provided, single submitter clinical testing Has not been previously published in association with LDB3-related disorders to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 45545; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20474083)
Invitae RCV000807856 SCV000947932 uncertain significance Myofibrillar myopathy 4 2023-02-08 criteria provided, single submitter clinical testing 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. 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: 45545). This variant is present in population databases (rs397517223, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 119 of the LDB3 protein (p.Ala119Val). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3:, and corresponds to c.321+1313C>T (Intronic) in the primary transcript.
Fulgent Genetics, Fulgent Genetics RCV002477106 SCV002781457 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380403 SCV004097518 uncertain significance Cardiovascular phenotype 2023-08-03 criteria provided, single submitter clinical testing The p.A119V variant (also known as c.356C>T), located in coding exon 4 of the LDB3 gene, results from a C to T substitution at nucleotide position 356. The alanine at codon 119 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038757 SCV000062435 uncertain significance not specified 2014-05-23 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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