ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45185T>C (p.Ile15062Thr)

gnomAD frequency: 0.00001  dbSNP: rs373627060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620604 SCV000735954 uncertain significance Cardiovascular phenotype 2017-07-19 criteria provided, single submitter clinical testing The p.I5997T variant (also known as c.17990T>C), located in coding exon 72 of the TTN gene, results from a T to C substitution at nucleotide position 17990. The isoleucine at codon 5997 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and threonine is the reference amino acid in other 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.
Revvity Omics, Revvity RCV003139938 SCV003822354 uncertain significance not provided 2020-07-24 criteria provided, single submitter clinical testing

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