ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64715T>C (p.Ile21572Thr)

gnomAD frequency: 0.00003  dbSNP: rs765749707
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620383 SCV000735848 uncertain significance Cardiovascular phenotype 2017-06-16 criteria provided, single submitter clinical testing The p.I12507T variant (also known as c.37520T>C), located in coding exon 137 of the TTN gene, results from a T to C substitution at nucleotide position 37520. The isoleucine at codon 12507 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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