ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61182G>C (p.Lys20394Asn)

gnomAD frequency: 0.00001  dbSNP: rs1251147363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593148 SCV000709381 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852512 SCV000995208 uncertain significance Hypertrophic cardiomyopathy 2018-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456315 SCV002616973 uncertain significance Cardiovascular phenotype 2019-06-19 criteria provided, single submitter clinical testing The p.K11329N variant (also known as c.33987G>C), located in coding exon 131 of the TTN gene, results from a G to C substitution at nucleotide position 33987. The lysine at codon 11329 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly 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.
PreventionGenetics, part of Exact Sciences RCV003945449 SCV004763559 uncertain significance TTN-related condition 2024-01-11 criteria provided, single submitter clinical testing The TTN c.61182G>C variant is predicted to result in the amino acid substitution p.Lys20394Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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