ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) (rs727503504)

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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 RCV000152077 SCV000200715 uncertain significance not specified 2013-05-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Arg170Gly v ariant in TNNI3 has not been reported in individuals with cardiomyopathy or in l arge population studies. Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Of note, a different amino acid change at the same location, Arg170Gln, has been reported in one individual with HCM (K aski, 2009) and identified by our laboratory in 6 children with RCM (in 2 of the se, parental testing revealed de novo occurrence). This increases the likelihood that the Arg170Gly variant is disease causing; however, additional information is still needed to fully assess the clinical significance of this variant.
UCLA Clinical Genomics Center, UCLA RCV000197009 SCV000255491 likely pathogenic Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 2013-02-19 criteria provided, single submitter clinical testing

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