ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr)

gnomAD frequency: 0.00002  dbSNP: rs762578274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593981 SCV000707975 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000593981 SCV001801387 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358661 SCV002620198 uncertain significance Cardiovascular phenotype 2020-03-10 criteria provided, single submitter clinical testing The p.I12702T variant (also known as c.38105T>C), located in coding exon 139 of the TTN gene, results from a T to C substitution at nucleotide position 38105. The isoleucine at codon 12702 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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