ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13228G>A (p.Glu4410Lys)

gnomAD frequency: 0.00003  dbSNP: rs374312091
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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) RCV000591076 SCV000701106 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358652 SCV002658748 uncertain significance Cardiovascular phenotype 2020-08-12 criteria provided, single submitter clinical testing The p.E4047K variant (also known as c.12139G>A), located in coding exon 44 of the TTN gene, results from a G to A substitution at nucleotide position 12139. The glutamic acid at codon 4047 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.
CeGaT Center for Human Genetics Tuebingen RCV000591076 SCV004698709 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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