ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys)

gnomAD frequency: 0.00002  dbSNP: rs759050071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000357965 SCV000341646 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV000558505 SCV000643153 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392809 SCV002702012 uncertain significance Cardiovascular phenotype 2020-07-08 criteria provided, single submitter clinical testing The p.E4988K variant (also known as c.14962G>A), located in coding exon 57 of the TTN gene, results from a G to A substitution at nucleotide position 14962. The glutamic acid at codon 4988 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.

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