ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter)

gnomAD frequency: 0.00001  dbSNP: rs397517821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041069 SCV000064760 uncertain significance not specified 2019-01-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Tyr5451X variant in TTN has not been reported in the literature but has been identified in a Caucasian infant with DCM tested by our laboratory (this individual, LMM unpublished data). This variant has not been identified in large and broad populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), which is consistent with a pathogenic role. However, we cannot exclude that it may be common in other populations. This nonsense variant creates a premature stop codon at position 5451. This variant is located in the last exon of an alternative transcript (Novex-3) and is expected to result in a truncated protein. Although similar variants are common in DCM patients (Herman 2012), the function of the Novex-3 transcript is unclear and thus additional data is needed to establish the clinical significance of this variant.
AiLife Diagnostics, AiLife Diagnostics RCV002223773 SCV002502127 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483025 SCV002782347 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-22 criteria provided, single submitter clinical testing

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