ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)

gnomAD frequency: 0.00003  dbSNP: rs373351577
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558569 SCV000643405 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000596680 SCV000709185 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000596680 SCV001745472 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438406 SCV002749209 uncertain significance Cardiovascular phenotype 2018-04-12 criteria provided, single submitter clinical testing The p.I9922T variant (also known as c.29765T>C), located in coding exon 118 of the TTN gene, results from a T to C substitution at nucleotide position 29765. The isoleucine at codon 9922 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well 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.

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