ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg)

dbSNP: rs1589675054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807188 SCV000947230 uncertain significance Myofibrillar myopathy 4 2022-08-24 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 490 of the LDB3 protein (p.Trp490Arg). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17189T>C in the primary transcript.
Ambry Genetics RCV002390615 SCV002698832 uncertain significance Cardiovascular phenotype 2019-12-21 criteria provided, single submitter clinical testing The p.W490R variant (also known as c.1468T>C), located in coding exon 9 of the LDB3 gene, results from a T to C substitution at nucleotide position 1468. The tryptophan at codon 490 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly 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.
Dept of Medical Biology, Uskudar University RCV003318387 SCV004022101 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PP3

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