ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) (rs750836033)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220857 SCV000272047 uncertain significance not specified 2016-01-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg1359Hi s variant in MYH7 has not been reported in individuals with cardiomyopathy. It h as been identified in 4/121242 pan ethnic chromosomes by the Exome Aggregation C onsortium (ExAC,; dbSNP rs750836033). This varian t was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Arg1359His variant is uncer tain.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626205 SCV000746848 likely pathogenic Dilated cardiomyopathy 1S 2017-12-18 criteria provided, single submitter clinical testing

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