ClinVar Miner

Submissions for variant NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) (rs121908335)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154745 SCV000204425 uncertain significance not specified 2014-07-10 criteria provided, single submitter clinical testing The Arg268Cys variant in LDB3 has been reported in 1 individual with clinical fe atures of myofibrillar myopathy (Selcen 2005). This variant has also been identi fied in 1/8284 of European American chromosomes by the NHLBI Exome Sequencing Pr oject (; dbSNP rs121908335). Computational pred iction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, the clinical significance of the Arg268Cys variant is uncertai n.
Ambry Genetics RCV000620537 SCV000736804 uncertain significance Cardiovascular phenotype 2017-05-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000770982 SCV000897967 uncertain significance Dilated cardiomyopathy 1C 2018-06-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769280 SCV000900658 uncertain significance Cardiomyopathy 2017-07-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845475 SCV000987570 uncertain significance Familial dilated cardiomyopathy criteria provided, single submitter clinical testing
OMIM RCV000004994 SCV000025170 pathogenic Myofibrillar myopathy, ZASP-related 2005-02-01 no assertion criteria provided literature only

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