ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.155T>C (p.Ile52Thr)

gnomAD frequency: 0.00002  dbSNP: rs1449865053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946108 SCV002210106 uncertain significance Myofibrillar myopathy 4 2022-08-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1433621). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 52 of the LDB3 protein (p.Ile52Thr).
Ambry Genetics RCV002397952 SCV002708885 uncertain significance Cardiovascular phenotype 2024-05-12 criteria provided, single submitter clinical testing The p.I52T variant (also known as c.155T>C), located in coding exon 2 of the LDB3 gene, results from a T to C substitution at nucleotide position 155. The isoleucine at codon 52 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002507629 SCV002797049 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2022-02-17 criteria provided, single submitter clinical testing

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