ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)

gnomAD frequency: 0.00003  dbSNP: rs759790522
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234214 SCV001406847 uncertain significance Myofibrillar myopathy 4 2023-06-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 960651). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs759790522, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 195 of the LDB3 protein (p.Ala195Thr).
GeneDx RCV002282493 SCV002571325 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002375245 SCV002671967 uncertain significance Cardiovascular phenotype 2023-05-11 criteria provided, single submitter clinical testing The p.A242T variant (also known as c.724G>A), located in coding exon 5 of the LDB3 gene, results from a G to A substitution at nucleotide position 724. The alanine at codon 242 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available 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.
Fulgent Genetics, Fulgent Genetics RCV002484279 SCV002791287 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-09-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002282493 SCV003816518 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing

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