ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2092G>T (p.Ala698Ser)

dbSNP: rs45577134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183543 SCV000236012 uncertain significance not provided 2014-03-21 criteria provided, single submitter clinical testing p.Ala698Ser (GCA>TCA): c.2092 G>T in exon 12 of the LDB3 gene (NM_007078.2). The A698S variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A698S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A698S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, missense mutations in nearby residues have not been reported, indicating this region of the protein may tolerate change. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).
Invitae RCV002517816 SCV002998348 uncertain significance Myofibrillar myopathy 4 2022-10-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 698 of the LDB3 protein (p.Ala698Ser). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*26876G>T in the primary transcript.

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