Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171991 | SCV000050972 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000156727 | SCV000206448 | uncertain significance | not specified | 2014-12-31 | criteria provided, single submitter | clinical testing | The p.Glu139Lys variant in LDB3 has been identified in 1 individual with HCM (L MM, unpublished data) and 1 individual with unknown clinical status (Ng 2013). I t has also been identified in 14/25364 South and East Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computationa l prediction tools and conservation analysis do not provide strong support for o r against an impact to the protein. In summary, the clinical significance of the p.Glu139Lys variant is uncertain. |
Ambry Genetics | RCV000617422 | SCV000735909 | uncertain significance | Cardiovascular phenotype | 2017-07-06 | criteria provided, single submitter | clinical testing | The p.E139K variant (also known as c.415G>A), located in coding exon 5 of the LDB3 gene, results from a G to A substitution at nucleotide position 415. The glutamic acid at codon 139 is replaced by lysine, an amino acid with similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet. 2013;6:337-46). 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. |
Invitae | RCV001088564 | SCV001009676 | likely benign | Myofibrillar myopathy 4 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000171991 | SCV002504620 | likely benign | not provided | 2021-04-06 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Revvity Omics, |
RCV000171991 | SCV003816501 | uncertain significance | not provided | 2019-09-03 | criteria provided, single submitter | clinical testing |