ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.794G>A (p.Arg265His) (rs45458895)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183529 SCV000235996 uncertain significance not provided 2014-04-02 criteria provided, single submitter clinical testing p.Arg265His (CGC>CAC): c.794 G>A in exon 5 of the LDB3 gene (NM_007078.2). The R265H variant in the LDB3 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism to our knowledge. Although R265H results in a conservative amino acid substitution of one positively charged residue for another, the substitution occurs at a residue that is conserved across species. A mutation affecting a nearby residue (R268C) has been reported in association with myofibrillar myopathy. The R265H variant has been reported in dbSNP in 1/366 control chromosomes, however it was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in DCM,CARDIOMYOPATHY panel(s).
Ambry Genetics RCV000622255 SCV000735402 uncertain significance Cardiovascular phenotype 2016-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769279 SCV000900657 uncertain significance Cardiomyopathy 2016-03-16 criteria provided, single submitter clinical testing
Invitae RCV000183529 SCV001004605 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing

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