ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58550T>C (p.Ile19517Thr)

gnomAD frequency: 0.00001  dbSNP: rs72646838
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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) RCV000734975 SCV000863160 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325453 SCV002607569 uncertain significance Cardiovascular phenotype 2018-09-06 criteria provided, single submitter clinical testing The p.I10452T variant (also known as c.31355T>C), located in coding exon 125 of the TTN gene, results from a T to C substitution at nucleotide position 31355. The isoleucine at codon 10452 is replaced by threonine, an amino acid with similar properties. This variant (also reported as p.I16949T) was detected in an individual reported to have arrhythmogenic right ventricular cardiomyopathy, but was also detected in the proband's unaffected parent (Taylor M et al. Circulation, 2011 Aug;124:876-85). This variant has been seen in an exome cohort, but cardiovascular history was not provided (Andreasen C et al. Eur. J. Hum. Genet., 2013 Sep;21:918-28). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000734975 SCV005201958 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; This variant is associated with the following publications: (PMID: 34426522, 32039858, 23299917, 31402444, 21810661)

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