ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83198T>C (p.Ile27733Thr)

gnomAD frequency: 0.00002  dbSNP: rs759928014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837896 SCV000979758 likely benign not provided 2018-05-02 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.
Ambry Genetics RCV002345922 SCV002648876 uncertain significance Cardiovascular phenotype 2020-01-14 criteria provided, single submitter clinical testing The p.I18668T variant (also known as c.56003T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 56003. The isoleucine at codon 18668 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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