ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile)

dbSNP: rs1021499065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831156 SCV000972897 likely benign not provided 2018-06-07 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.
Ambry Genetics RCV002319944 SCV002606490 uncertain significance Cardiovascular phenotype 2019-09-25 criteria provided, single submitter clinical testing The p.V10924I variant (also known as c.32770G>A), located in coding exon 130 of the TTN gene, results from a G to A substitution at nucleotide position 32770. The valine at codon 10924 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is 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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