ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.272C>T (p.Thr91Met)

gnomAD frequency: 0.00001  dbSNP: rs769237367
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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 RCV000639875 SCV000761458 uncertain significance Myofibrillar myopathy 4 2017-09-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with LDB3-related disease. This variant is present in population databases (rs769237367, ExAC 0.01%). This sequence change replaces threonine with methionine at codon 91 of the LDB3 protein (p.Thr91Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine.
Ambry Genetics RCV002440275 SCV002741580 uncertain significance Cardiovascular phenotype 2023-09-08 criteria provided, single submitter clinical testing The p.T91M variant (also known as c.272C>T), located in coding exon 3 of the LDB3 gene, results from a C to T substitution at nucleotide position 272. The threonine at codon 91 is replaced by methionine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, methionine is the reference amino acid in other 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.
GeneDx RCV003313120 SCV004012724 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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