ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)

gnomAD frequency: 0.00020  dbSNP: rs367816473
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Total submissions: 4
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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 RCV000154936 SCV000204618 uncertain significance not specified 2017-09-11 criteria provided, single submitter clinical testing The p.Thr17031Ile variant in TTN has been identified by our laboratory in 1 Afri can American individual with DCM. It has also been identified in 11/23996 of Afr ican chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs367816473). This variant has also been reported in ClinVa r (Variation ID:178204). Computational prediction tools and conservation analysi s do not provide strong support for or against an impact to the protein, though several reptiles and some fish species carry an isoleucine (Ile) at this positio n which suggests that this change may be tolerated. In summary, the clinical sig nificance of the p.Thr17031Ile variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000477041 SCV000542293 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001589013 SCV001825004 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Revvity Omics, Revvity RCV001589013 SCV003822133 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing

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