ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) (rs368516973)

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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 RCV000726536 SCV000345329 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000304138 SCV000728547 likely benign not specified 2017-12-14 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.
Ambry Genetics RCV000619523 SCV000737333 uncertain significance Cardiovascular phenotype 2017-12-16 criteria provided, single submitter clinical testing The p.L21046P variant (also known as c.63137T>C), located in coding exon 162 of the TTN gene, results from a T to C substitution at nucleotide position 63137. The leucine at codon 21046 is replaced by proline, 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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