ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) (rs375266859)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040090 SCV000063781 uncertain significance not specified 2012-07-02 criteria provided, single submitter clinical testing The Arg8500Cys variant in TTN has not been reported in the literature, but has b een identified in 1 individual with DCM tested by our laboratory. This variant h as not been identified in a very large and broad population by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS). This low frequency is cons istent with a disease causing role, but insufficient to establish this with conf idence. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the cli nical significance of the Arg8500Cys variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415299 SCV000492926 likely benign Sudden cardiac death; Cardiac arrest 2014-01-08 criteria provided, single submitter clinical testing
Invitae RCV000530713 SCV000642942 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730819 SCV000858583 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769897 SCV000901323 uncertain significance Cardiomyopathy 2016-11-16 criteria provided, single submitter clinical testing

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