Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001337557 | SCV001531163 | uncertain significance | Myofibrillar myopathy 4 | 2023-09-27 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 180398). 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 aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 58 of the LDB3 protein (p.Asp58Asn). |
| Ambry Genetics | RCV004019897 | SCV003881885 | uncertain significance | Cardiovascular phenotype | 2023-01-31 | criteria provided, single submitter | clinical testing | The c.172G>A (p.D58N) alteration is located in exon 2 (coding exon 2) of the LDB3 gene. This alteration results from a G to A substitution at nucleotide position 172, causing the aspartic acid (D) at amino acid position 58 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Blueprint Genetics | RCV000157286 | SCV000207017 | likely benign | Primary familial hypertrophic cardiomyopathy | 2014-05-13 | no assertion criteria provided | clinical testing |