ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43857T>G (p.Phe14619Leu)

gnomAD frequency: 0.00001  dbSNP: rs202179380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172334 SCV000055002 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000621637 SCV000735923 uncertain significance Cardiovascular phenotype 2019-04-18 criteria provided, single submitter clinical testing The p.F5554L variant (also known as c.16662T>G), located in coding exon 64 of the TTN gene, results from a T to G substitution at nucleotide position 16662. The phenylalanine at codon 5554 is replaced by leucine, an amino acid with highly similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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.
Revvity Omics, Revvity RCV000172334 SCV003825970 uncertain significance not provided 2019-08-29 criteria provided, single submitter clinical testing

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