ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94843G>A (p.Glu31615Lys)

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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 RCV002369285 SCV002661680 uncertain significance Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing The p.E22550K variant (also known as c.67648G>A), located in coding exon 169 of the TTN gene, results from a G to A substitution at nucleotide position 67648. The glutamic acid at codon 22550 is replaced by lysine, an amino acid with 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.
Revvity Omics, Revvity RCV003138219 SCV003819067 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003138219 SCV004225784 uncertain significance not provided 2022-04-14 criteria provided, single submitter clinical testing

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