ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys)

gnomAD frequency: 0.00002  dbSNP: rs370515843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475748 SCV000542817 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339118 SCV002644645 uncertain significance Cardiovascular phenotype 2020-07-17 criteria provided, single submitter clinical testing The p.E17031K variant (also known as c.51091G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 51091. The glutamic acid at codon 17031 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.

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