ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14272G>A (p.Glu4758Lys)

gnomAD frequency: 0.00003  dbSNP: rs928709551
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622028 SCV000735408 uncertain significance Cardiovascular phenotype 2020-07-02 criteria provided, single submitter clinical testing The p.E4395K variant (also known as c.13183G>A), located in coding exon 45 of the TTN gene, results from a G to A substitution at nucleotide position 13183. The glutamic acid at codon 4395 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 variant remains unclear.

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