ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg)

gnomAD frequency: 0.00003  dbSNP: rs727505311
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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 RCV000156850 SCV000206571 uncertain significance not specified 2014-10-08 criteria provided, single submitter clinical testing The p.Thr30124Arg variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Thr30124Arg variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000642991 SCV000764678 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137687 SCV003822835 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734745 SCV005357298 uncertain significance TTN-related disorder 2024-07-11 no assertion criteria provided clinical testing The TTN c.98075C>G variant is predicted to result in the amino acid substitution p.Thr32692Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.053% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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