ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98713G>A (p.Glu32905Lys)

dbSNP: rs763344306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002361002 SCV002665827 uncertain significance Cardiovascular phenotype 2019-09-26 criteria provided, single submitter clinical testing The p.E23840K variant (also known as c.71518G>A), located in coding exon 180 of the TTN gene, results from a G to A substitution at nucleotide position 71518. The glutamic acid at codon 23840 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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.
Clinical Genetics, Academic Medical Center RCV001699884 SCV001921683 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699884 SCV001928540 uncertain significance not provided no assertion criteria provided clinical testing

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