ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)

gnomAD frequency: 0.00006  dbSNP: rs374613600
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171991 SCV000050972 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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single submitter clinical testing The p.Glu139Lys variant in LDB3 has been identified in 1 individual with HCM (L MM, unpublished data) and 1 individual with unknown clinical status (Ng 2013).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
GeneDx RCV000171991 SCV002504620 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Revvity Omics, Revvity RCV000171991 SCV003816501 uncertain significance not provided 2019-09-03 criteria provided, single submitter clinical testing

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