ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.488C>G (p.Pro163Arg)

gnomAD frequency: 0.00001  dbSNP: rs776608362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398403 SCV001600173 uncertain significance Myofibrillar myopathy 4 2024-05-07 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.321+1445C>G in the primary transcript. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 163 of the LDB3 protein (p.Pro163Arg). This variant is present in population databases (rs776608362, gnomAD 0.003%). 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: 1082176). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV004641637 SCV005135944 uncertain significance Cardiovascular phenotype 2024-05-05 criteria provided, single submitter clinical testing The p.P163R variant (also known as c.488C>G), located in coding exon 4 of the LDB3 gene, results from a C to G substitution at nucleotide position 488. The proline at codon 163 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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