ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68712T>C (p.Thr22904=)

gnomAD frequency: 0.00001  dbSNP: rs397517678
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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 RCV000040540 SCV000064231 likely benign not specified 2012-07-10 criteria provided, single submitter clinical testing Thr20336Thr in exon 272 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Thr20336Thr in exon 272 of TTN (allele fre quency = n/a)
GeneDx RCV000040540 SCV000725769 likely benign not specified 2017-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001484012 SCV001688420 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-07-08 criteria provided, single submitter clinical testing

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