ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.905T>C (p.Ile302Thr)

gnomAD frequency: 0.00003  dbSNP: rs777489502
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551898 SCV001772498 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002370194 SCV002688510 uncertain significance Cardiovascular phenotype 2022-01-05 criteria provided, single submitter clinical testing The p.I302T variant (also known as c.905T>C), located in coding exon 7 of the LDB3 gene, results from a T to C substitution at nucleotide position 905. The isoleucine at codon 302 is replaced by threonine, 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.
Invitae RCV002568983 SCV003458820 uncertain significance Myofibrillar myopathy 4 2023-04-11 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs777489502, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 302 of the LDB3 protein (p.Ile302Thr). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*7165T>C in the primary transcript.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331184 SCV004038177 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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