ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102206A>G (p.Gln34069Arg)

gnomAD frequency: 0.00001  dbSNP: rs780466011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508096 SCV001714020 uncertain significance not provided 2019-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388566 SCV002675066 uncertain significance Cardiovascular phenotype 2019-07-16 criteria provided, single submitter clinical testing The p.Q25004R variant (also known as c.75011A>G), located in coding exon 185 of the TTN gene, results from an A to G substitution at nucleotide position 75011. The glutamine at codon 25004 is replaced by arginine, an amino acid with highly similar 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.

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