ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12391T>A (p.Phe4131Ile)

gnomAD frequency: 0.00006  dbSNP: rs750186297
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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 RCV000617369 SCV000736871 uncertain significance Cardiovascular phenotype 2017-09-15 criteria provided, single submitter clinical testing The p.F3768I variant (also known as c.11302T>A), located in coding exon 44 of the TTN gene, results from a T to A substitution at nucleotide position 11302. The phenylalanine at codon 3768 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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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