ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61958C>T (p.Thr20653Ile)

dbSNP: rs1553641323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591244 SCV000709080 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456313 SCV002613955 uncertain significance Cardiovascular phenotype 2019-01-03 criteria provided, single submitter clinical testing The p.T11588I variant (also known as c.34763C>T), located in coding exon 131 of the TTN gene, results from a C to T substitution at nucleotide position 34763. The threonine at codon 11588 is replaced by isoleucine, 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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