ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr) (rs754676727)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724870 SCV000228672 uncertain significance not provided 2015-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245527 SCV000318964 uncertain significance Cardiovascular phenotype 2013-10-11 criteria provided, single submitter clinical testing The p.I27427T variant (also known as c.82280T>C) is located in coding exon 283 of theTTNgene. This alteration results from a T to C substitution at nucleotide position 82280. The isoleucine at codon 27427 is replaced by threonine, an amino acid with some similar properties. ​This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 5593 samples (11986 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species, with threonine as the reference amino acid in many species.In addition, this alteration is predicted to be benign by PolyPhen in silico analysis. Sinceevidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV000176904 SCV000732585 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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