ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1904T>G (p.Val635Gly)

gnomAD frequency: 0.00005  dbSNP: rs567014755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240217 SCV001413143 uncertain significance Myofibrillar myopathy 4 2024-11-03 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*19399T>G in the primary transcript. This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 635 of the LDB3 protein (p.Val635Gly). This variant is present in population databases (rs567014755, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Athena Diagnostics RCV001664774 SCV001880371 uncertain significance not provided 2020-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001664774 SCV002578267 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV004639525 SCV005135932 uncertain significance Cardiovascular phenotype 2024-05-13 criteria provided, single submitter clinical testing The p.V635G variant (also known as c.1904T>G), located in coding exon 11 of the LDB3 gene, results from a T to G substitution at nucleotide position 1904. The valine at codon 635 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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