ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48212C>T (p.Ser16071Leu)

gnomAD frequency: 0.00001  dbSNP: rs794727332
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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) RCV000176137 SCV000227744 uncertain significance not provided 2014-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415760 SCV002724549 uncertain significance Cardiovascular phenotype 2020-01-03 criteria provided, single submitter clinical testing The p.S7006L variant (also known as c.21017C>T), located in coding exon 84 of the TTN gene, results from a C to T substitution at nucleotide position 21017. The serine at codon 7006 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000176137 SCV005413097 uncertain significance not provided 2024-05-17 criteria provided, single submitter clinical testing PM2

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