ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) (rs727504590)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171859 SCV000050878 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155763 SCV000205474 uncertain significance not specified 2013-07-18 criteria provided, single submitter clinical testing The Thr347Met variant in ACTN2 has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that th e Thr347Met variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. Additional information is needed to ful ly assess the clinical significance of this variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415429 SCV000492709 uncertain significance Syncope; Hypertrophic cardiomyopathy 2015-10-29 criteria provided, single submitter clinical testing
Invitae RCV000171859 SCV000760183 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852594 SCV000995296 likely benign Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing

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