ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) (rs374631591)

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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 RCV000041097 SCV000064788 uncertain significance not specified 2021-03-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile3980Thr variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 0.02% (20/127992) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of this variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting, BP4.
GeneDx RCV000041097 SCV000238178 likely benign not specified 2017-11-16 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 RCV000725423 SCV000336835 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770111 SCV000901537 uncertain significance Cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing

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