ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) (rs200430493)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154874 SCV000204556 likely benign not specified 2014-10-24 criteria provided, single submitter clinical testing p.Val31606Ile in exon 307 of TTN: This variant is not expected to have clinical significance due to a lack of evolutionary conservation. Of note, 4 mammals (gib bon, opossum, Tasmanian devil, and platypus) as well as several reptiles and fro g have an isoleucine (Ile) at this position despite high nearby amino acid conse rvation. It has also been identified in 1/8290 European American chromosomes and in 3/3904 African American chromosomes by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs200430493).
Genetic Services Laboratory, University of Chicago RCV000154874 SCV000249291 uncertain significance not specified 2014-10-31 criteria provided, single submitter clinical testing
Invitae RCV000554691 SCV000642519 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732023 SCV000859899 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000732023 SCV000978109 likely benign not provided 2018-07-10 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000732023 SCV001152595 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing

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