ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter)

dbSNP: rs754781119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791623 SCV000930881 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2126*) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. This variant is present in population databases (rs754781119, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with clinical features of autosomal dominant dilated cardiomyopathy (internal data). ClinVar contains an entry for this variant (Variation ID: 638941). This variant is located in the Z band of TTN (PMID: 25589632). Truncating variants in this region have been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 33449170, internal data). Truncating variants in this region have also been identified in individuals affected with autosomal dominant dilated cardiomyopathy and/or cardio-related conditions (PMID: 27869827, 32964742, internal data). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003141771 SCV003822872 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing

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