ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)

gnomAD frequency: 0.00012  dbSNP: rs201998913
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154896 SCV000204578 uncertain significance not specified 2013-04-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr27508Met var iant in TTN has not been reported in individuals with cardiomyopathy, but has be en identified in 2/8340 European American chromosomes and 3/4086 African America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs201998913). Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant m ay not impact the protein and one mammal (dog) actually carries a methionine (Me t; this variant) at position 27508, though this information is not predictive en ough to rule out pathogenicity. In summary, the frequency of this variant and it s presence in another mammal suggest that it is more likely benign, but addition al information is needed to fully assess the clinical significance of this varia nt.
Eurofins Ntd Llc (ga) RCV000734114 SCV000862230 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000734114 SCV001781150 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362821 SCV002660569 uncertain significance Cardiovascular phenotype 2019-10-23 criteria provided, single submitter clinical testing The p.T21011M variant (also known as c.63032C>T), located in coding exon 162 of the TTN gene, results from a C to T substitution at nucleotide position 63032. The threonine at codon 21011 is replaced by methionine, an amino acid with 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150810 SCV003839038 likely benign Cardiomyopathy 2022-03-31 criteria provided, single submitter clinical testing

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