ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66815T>C (p.Ile22272Thr)

gnomAD frequency: 0.00002  dbSNP: rs773998250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000997418 SCV001713225 uncertain significance not provided 2020-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372719 SCV002624044 uncertain significance Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing The p.I13207T variant (also known as c.39620T>C), located in coding exon 144 of the TTN gene, results from a T to C substitution at nucleotide position 39620. The isoleucine at codon 13207 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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