ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) (rs201717871)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000082407 SCV000054996 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154942 SCV000204624 likely benign not specified 2018-11-26 criteria provided, single submitter clinical testing The p.Val13125Ile variant in TTN is classified as likely benign because it has been identified as 0.1% (160/125582) of European chromosomes by gnomAD (http://g nomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
GeneDx RCV000154942 SCV000237207 likely benign not specified 2018-01-23 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082407 SCV000335992 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391614 SCV000423157 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298829 SCV000423158 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335113 SCV000423159 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404084 SCV000423160 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299417 SCV000423161 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368094 SCV000423162 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000082407 SCV000555283 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000082407 SCV000616091 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618716 SCV000736760 likely benign Cardiovascular phenotype 2019-04-08 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign);Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000082407 SCV001152906 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000154942 SCV001157721 uncertain significance not specified 2018-07-25 criteria provided, single submitter clinical testing The TTN c.39373G>A; p.Val13125Ile variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Val13125Ile variant cannot be determined with certainty. References: Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11). Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28.

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