ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) (rs193212275)

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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 RCV000039843 SCV000063534 uncertain significance not specified 2013-06-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Cys33350Tyr var iant in TTN has been identified by our laboratory in 1 Black individual with iso lated right atrial enlargement and 1 Black individual with HCM (LMM unpublished data). It has also been identified in 1.1% (2/176) of Yoruba chromosomes by the 1000 Genomes Project (dbSNP rs193212275) and 0.1% (4/3778) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/). Computational analyses (biochemical amino acid properties, conservation, P olyPhen2, and SIFT) suggest that this variant may impact the protein, though thi s information is not predictive enough to determine pathogenicity. Although the frequency of this variant suggests that it may be more likely benign, it is too low to confidently rule out a disease-causing role. Additional studies are neede d to fully assess the clinical significance of this variant.
GeneDx RCV000039843 SCV000237979 likely benign not specified 2018-02-21 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 RCV000464810 SCV000542306 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769835 SCV000901261 uncertain significance Cardiomyopathy 2017-03-01 criteria provided, single submitter clinical testing

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