ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) (rs200471370)

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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 RCV000040583 SCV000064274 uncertain significance not specified 2012-01-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Met21493Thr var iant (TTN) has not been previously reported in the literature, but has been dete cted in 1 Caucasian individual with DCM tested by our laboratory and did not seg regate with disease in 1 affected relative. This variant has been identified in 5/6610 European American chromosomes from a broad, though clinically unspecified population (NHLBI Exome Sequencing Project; http://evs.gs.washington.edu/EVS). Methionine (Met) at position 21493 is conserved in mammals, but not in more dist antly related species, suggesting that a change may be tolerated. Computational predictions are mixed regarding the possible impact to the protein (AlignGVGD = benign, SIFT = pathogenic), though the accuracy of these tools is unknown. Altho ugh this data suggests that the Met21493Thr variant may be benign, additional in formation is needed to fully assess its clinical significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723985 SCV000228513 uncertain significance not provided 2014-06-04 criteria provided, single submitter clinical testing
Invitae RCV000460260 SCV000542912 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620443 SCV000737073 likely benign Cardiovascular phenotype 2020-05-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneDx RCV000723985 SCV001823204 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27193218, 24503780)

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