ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33419-2A>C

gnomAD frequency: 0.00001  dbSNP: rs756841034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001965474 SCV002219414 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1440079). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the I band of TTN (PMID: 25589632). Truncating variants in this region have been shown to be highly prevalent in the general population and unaffected individuals (PMID: 26701604, 22335739). However, truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs756841034, gnomAD 0.01%). This sequence change affects an acceptor splice site in intron 139 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein.
Fulgent Genetics, Fulgent Genetics RCV002479530 SCV002792267 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 2021-09-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136347 SCV003819017 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing
GeneDx RCV003136347 SCV004036898 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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