ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)

gnomAD frequency: 0.00004  dbSNP: rs200954184
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517328 SCV000616024 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525218 SCV000642804 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 7262 of the TTN protein (p.Thr7262Ser). This variant is present in population databases (rs200954184, gnomAD 0.01%). This missense change has been observed in individual(s) with sick sinus syndrome (PMID: 27182706). ClinVar contains an entry for this variant (Variation ID: 448774). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is located in the I band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). 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.
GeneDx RCV000517328 SCV001770756 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27182706)
Revvity Omics, Revvity RCV000517328 SCV003824174 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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