Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154748 | SCV000204428 | likely benign | not specified | 2015-09-10 | criteria provided, single submitter | clinical testing | p.Pro357Pro in exon 10 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6/57332 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs143823978). |
Gene |
RCV001534591 | SCV000534646 | likely benign | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769286 | SCV000900664 | likely benign | Cardiomyopathy | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001240925 | SCV001413908 | uncertain significance | Myofibrillar myopathy 4 | 2023-12-18 | 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.*7331T>A in the primary transcript. This sequence change affects codon 357 of the LDB3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LDB3 protein. This variant is present in population databases (rs143823978, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of myofibrillar myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 178060). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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 | RCV002415657 | SCV002721368 | likely benign | Cardiovascular phenotype | 2019-09-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |