ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.12484C>T (p.Gln4162Ter)

gnomAD frequency: 0.00001  dbSNP: rs727504521
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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 RCV000155668 SCV000205378 uncertain significance not specified 2013-04-12 criteria provided, single submitter clinical testing The Gln4162X variant in TTN has not been reported in individuals with cardiomyop athy or in large population studies. This nonsense variant creates a premature s top codon at position 4162. This variant is located in the last exon of an alter native transcript (Novex-3) and is expected to result in a truncated protein. A lthough truncating variants in the TTN gene are common in individuals with DCM ( Herman 2012), the function of the Novex-3 transcript is unclear. In summary, add itional information is needed to fully assess the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000727322 SCV000707553 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404278 SCV006068685 uncertain significance Cardiovascular phenotype 2025-04-09 criteria provided, single submitter clinical testing

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