Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001464348 | SCV001668315 | uncertain significance | Myofibrillar myopathy 4 | 2023-05-23 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1130750). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs769852198, gnomAD 0.06%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 194 of the LDB3 protein (p.Gln194Leu). 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+1538A>T in the primary transcript. |
Ambry Genetics | RCV002359035 | SCV002649769 | uncertain significance | Cardiovascular phenotype | 2020-07-13 | criteria provided, single submitter | clinical testing | The p.Q194L variant (also known as c.581A>T), located in coding exon 4 of the LDB3 gene, results from an A to T substitution at nucleotide position 581. The glutamine at codon 194 is replaced by leucine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |