ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe)

gnomAD frequency: 0.00004  dbSNP: rs397517641
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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 RCV000040414 SCV000064105 uncertain significance not specified 2015-07-06 criteria provided, single submitter clinical testing The p.Ser1711Phe variant in TTN has been previously identified by our laboratory in 1 child with DCM who also carried a likely pathogenic variant in this gene. It has also been identified in 1/66648 European chromosomes and 1/908 chromosome s of unspecified ancestry by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs397517641). Computational prediction tools and cons ervation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ser1711Phe variant is uncertain.
Invitae RCV000229353 SCV000286705 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137566 SCV003825937 uncertain significance not provided 2019-06-14 criteria provided, single submitter clinical testing

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