ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) (rs72648945)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154993 SCV000204675 uncertain significance not specified 2014-07-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile4692Val vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/8184 European American chromosomes and by the NHLBI Exome Sequencing Project (; dbSNP rs72648945). Isoleucine (Ile) at position 4692 is not conserved in evolutionarily distant sp ecies and 15 birds and 2 reptiles carry a valine (Val) at this position, raising the possibility that a change at this position may be tolerated. In summary, wh ile the clinical significance of the Ile4692Val variant is uncertain, conservati on data suggest that it is more likely to be benign.
GeneDx RCV000154993 SCV000238244 likely benign not specified 2017-03-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000468325 SCV000542358 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727723 SCV000855078 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing

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