ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr)

gnomAD frequency: 0.00001  dbSNP: rs727505129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156586 SCV000206305 uncertain significance not specified 2014-06-19 criteria provided, single submitter clinical testing The Ala722Thr variant in LDB3 has not been previously reported in individuals wi th cardiomyopathy and was absent from large population studies. Computational pr ediction tools and conservation analysis do not provide strong support for or ag ainst an impact to the protein. In summary, the clinical significance of the Ala 722Thr variant is uncertain.
Invitae RCV001241126 SCV001414121 uncertain significance Myofibrillar myopathy 4 2023-09-20 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. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*33582G>A in the primary transcript. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 179788). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs727505129, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 722 of the LDB3 protein (p.Ala722Thr).
Ambry Genetics RCV002426757 SCV002727360 uncertain significance Cardiovascular phenotype 2023-07-26 criteria provided, single submitter clinical testing The p.A722T variant (also known as c.2164G>A), located in coding exon 13 of the LDB3 gene, results from a G to A substitution at nucleotide position 2164. The alanine at codon 722 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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