ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) (rs201831707)

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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 RCV000040734 SCV000064425 uncertain significance not specified 2012-01-10 criteria provided, single submitter clinical testing The Tyr26640Phe variant (TTN) has not been reported in the literature, but has b een identified in 5/6690 European American chromosomes and 1/3224 African Americ an chromosomes from a broad, though clinically unspecified population (NHLBI Exo me Sequencing Project; http://evs.gs.washington.edu/EVS). Tyrosine (Tyr) at posi tion 26640 is highly conserved in mammals and across evolutionarily distant spec ies, increasing the likelihood that a change would not be tolerated. Computation al predictions on the impact to the protein are mixed (AlignGVGD, SIFT), though the accuracy of these tools is unknown. Additional data is needed to further ass ess the clinical significance of the Tyr26640Phe variant.
GeneDx RCV000040734 SCV000237683 likely benign not specified 2018-01-22 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 RCV000225888 SCV000286887 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244493 SCV000318374 uncertain significance Cardiovascular phenotype 2013-03-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726191 SCV000701287 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing

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