ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4543A>C (p.Thr1515Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003236749 SCV003935139 uncertain significance Hypertrophic cardiomyopathy 14 2023-06-24 criteria provided, single submitter clinical testing The novel heterozygous variant c.4543A>C (p.Thr1515Pro) has been identified in a proband with atrial septal defect and congenital acyanotic heart disease. The same variant has been identified in the proband’s father and aunt who have atrial septal defect . This variant has not been found in gnomAD aggregate (PM2_moderate).

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