ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101159A>G (p.Lys33720Arg)

gnomAD frequency: 0.00002  dbSNP: rs727503535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152162 SCV000200881 uncertain significance not specified 2014-04-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys31152Arg var iant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Lysine (Lys) at position 31152 is not conserved in evolution and >15 bird and fish species carry an arginine (Arg), suggesting t hat this change may be tolerated. Although this data raises the possibility that the Lys31152Arg variant may be benign, additional studies are needed to fully d etermine this with confidence.
Ambry Genetics RCV002381475 SCV002673598 uncertain significance Cardiovascular phenotype 2019-04-16 criteria provided, single submitter clinical testing The p.K24655R variant (also known as c.73964A>G), located in coding exon 185 of the TTN gene, results from an A to G substitution at nucleotide position 73964. The lysine at codon 24655 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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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