ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn)

dbSNP: rs550999055
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727712 SCV000855062 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769928 SCV000901354 uncertain significance Cardiomyopathy 2016-10-27 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293050 SCV001434030 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research
Ambry Genetics RCV002343594 SCV002641677 uncertain significance Cardiovascular phenotype 2018-09-12 criteria provided, single submitter clinical testing The p.K17947N variant (also known as c.53841G>T), located in coding exon 153 of the TTN gene, results from a G to T substitution at nucleotide position 53841. The lysine at codon 17947 is replaced by asparagine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of approximately 0.02% ((48/245328) total alleles studied. The highest observed frequency was 0.16% (48/30764) of South Asian alleles. 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.
Revvity Omics, Revvity RCV000727712 SCV003826651 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing

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