ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.733G>A (p.Val245Ile)

gnomAD frequency: 0.00002  dbSNP: rs573061464
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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 RCV000156112 SCV000205825 uncertain significance not specified 2013-11-29 criteria provided, single submitter clinical testing The Val245Ile variant in LDB3 has not been previously reported in individuals wi th cardiomyopathy and was absent from large population studies. Computational an alyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, a nd SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of th is variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001324345 SCV001515296 uncertain significance Myofibrillar myopathy 4 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 198 of the LDB3 protein (p.Val198Ile). This variant is present in population databases (rs573061464, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 179323). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV005252777 SCV005906587 likely benign not provided 2024-10-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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