ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu)

gnomAD frequency: 0.00001  dbSNP: rs139957325
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464658 SCV000542492 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618980 SCV000735824 uncertain significance Cardiovascular phenotype 2017-03-21 criteria provided, single submitter clinical testing The p.K699E variant (also known as c.2095A>G), located in coding exon 12 of the TTN gene, results from an A to G substitution at nucleotide position 2095. The lysine at codon 699 is replaced by glutamic acid, 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.
Athena Diagnostics Inc RCV000993399 SCV001146341 uncertain significance not provided 2019-04-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000993399 SCV004225941 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing BP4

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