ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) (rs370479059)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727784 SCV000884801 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing The c.82920T>C; p.Asn27640Asn variant does not alter the amino acid sequence of the TTN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.02 % (identified on 49 out of 275,840 chromosomes), and evidence suggests that the vast majority of rare non-truncating TTN variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the c.82920T>C variant is likely to be benign. Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11).
Ambry Genetics RCV000251412 SCV000318994 likely benign Cardiovascular phenotype 2013-10-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769888 SCV000901314 uncertain significance Cardiomyopathy 2016-06-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727784 SCV000855181 uncertain significance not provided 2017-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000040768 SCV000515179 likely benign not specified 2016-11-17 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 RCV000233758 SCV000286904 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040768 SCV000064459 likely benign not specified 2012-01-31 criteria provided, single submitter clinical testing p.Asn27640Asn in exon 284 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/6690 European American chromosomes and 1/3214 African American chromosomes by the NHLBI Exome sequencing project in a broad population (http://evs.gs.washington.edu/EVS).

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