ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89639T>G (p.Leu29880Arg)

gnomAD frequency: 0.00001  dbSNP: rs781165041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841573 SCV000983544 likely benign not provided 2018-04-10 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.
PreventionGenetics, part of Exact Sciences RCV003396484 SCV004110481 uncertain significance TTN-related condition 2022-12-29 criteria provided, single submitter clinical testing The TTN c.89639T>G variant is predicted to result in the amino acid substitution p.Leu29880Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179417988-A-C). 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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