Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001240063 | SCV001412984 | uncertain significance | Myofibrillar myopathy 4 | 2022-03-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs544084461, gnomAD 0.003%). 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. ClinVar contains an entry for this variant (Variation ID: 965576). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 305 of the LDB3 protein (p.Ala305Glu). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*7174C>A in the primary transcript. |
| Ambry Genetics | RCV002375265 | SCV002684819 | uncertain significance | Cardiovascular phenotype | 2023-07-21 | criteria provided, single submitter | clinical testing | The p.A305E variant (also known as c.914C>A), located in coding exon 7 of the LDB3 gene, results from a C to A substitution at nucleotide position 914. The alanine at codon 305 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |