ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln) (rs747523570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767129 SCV000236010 uncertain significance not provided 2012-07-31 criteria provided, single submitter clinical testing p.Arg600Gln (CGA>CAA):c.1799 G>A in exon 10 of the LDB3 gene (NM_007078.2). The Arg600Gln variant in the LDB3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg600Gln results in a semi-conservative amino acid substitution of a positively-charged Arginine with a neutral Glutamine at a position that is moderately conserved across species. In addition, no other mutations in surrounding residues have been reported in association with cardiomyopathy, indicating this region of the protein may be tolerant of change. The NHLBI ESP Exome Variant Server reports Arg600Gln was not observed in approximately 6000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Arg600Gln is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000183541 SCV000271912 uncertain significance not specified 2015-08-12 criteria provided, single submitter clinical testing The p.Arg600Gln variant in LDB3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66736 European chromosomes and 1/6614 Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summa ry, the clinical significance of the p.Arg600Gln variant is uncertain.

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