ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter)

dbSNP: rs794727945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180426 SCV000232859 uncertain significance not provided 2015-04-11 criteria provided, single submitter clinical testing
Invitae RCV000642705 SCV000764392 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8494*) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. 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). ClinVar contains an entry for this variant (Variation ID: 198960). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive TTN-related conditions and/or TTN-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
AiLife Diagnostics, AiLife Diagnostics RCV000180426 SCV002501777 uncertain significance not provided 2021-07-23 criteria provided, single submitter clinical testing

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