ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.938C>T (p.Thr313Ile)

gnomAD frequency: 0.00001  dbSNP: rs367882377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227351 SCV002506223 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing The LDB3 c.938C>T, p.Thr313Ile variant (rs367882377) is also known as c.*7198C>T for NM_001080116.1, and has not been reported in association with cardiomyopathy in the medical literature or in gene specific variation databases. This variant is found in an alternate transcript of LDB3 (NM_007078.3) that is not highly expressed in the heart (Genotype-Tissue Expression project). This variant is found in the South Asian population with an allele frequency of 0.01% (3/30594 alleles) in the Genome Aggregation Database. The threonine at codon 313 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.075). However, given the lack of clinical and functional data, the significance of the p.Thr313Ile variant is uncertain at this time.
Ambry Genetics RCV002373054 SCV002688730 uncertain significance Cardiovascular phenotype 2022-04-19 criteria provided, single submitter clinical testing The p.T313I variant (also known as c.938C>T), located in coding exon 7 of the LDB3 gene, results from a C to T substitution at nucleotide position 938. The threonine at codon 313 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005095788 SCV005829825 uncertain significance Myofibrillar myopathy 4 2024-09-13 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.*7198C>T in the primary transcript. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 313 of the LDB3 protein (p.Thr313Ile). This variant is present in population databases (rs367882377, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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.

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