ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) (rs876658043)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217872 SCV000272595 uncertain significance not specified 2015-02-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr6075Ile va riant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Threonine (Thr) at position 6075 is not conserv ed in evolutionarily distant species and the change to isoleucine (Ile) is prese nt in 10 fish species, suggesting that this change may be tolerated. Additional computational prediction tools do not provide strong evidence for or against an impact the protein. In summary, while the clinical significance of the p.Thr6075 Ile variant is uncertain, the presence of the variant amino acid in multiple oth er species suggests that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000353761 SCV000424310 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261341 SCV000424311 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318694 SCV000424312 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375614 SCV000424313 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264761 SCV000424314 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322250 SCV000424315 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713989 SCV000844645 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing

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