ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.338C>T (p.Thr113Met)

gnomAD frequency: 0.00002  dbSNP: rs563714303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617313 SCV000736201 uncertain significance Cardiovascular phenotype 2023-04-22 criteria provided, single submitter clinical testing The p.T113M variant (also known as c.338C>T), located in coding exon 4 of the LDB3 gene, results from a C to T substitution at nucleotide position 338. The threonine at codon 113 is replaced by methionine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and methionine is the reference amino acid in several 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.
Invitae RCV000938606 SCV001084421 uncertain significance Myofibrillar myopathy 4 2023-09-23 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.321+1295C>T in the primary transcript. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 113 of the LDB3 protein (p.Thr113Met). This variant is present in population databases (rs563714303, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 518772). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV002483705 SCV002792511 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-09-15 criteria provided, single submitter clinical testing

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