ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.250G>T (p.Glu84Ter) (rs759523214)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252975 SCV000320205 uncertain significance Cardiovascular phenotype 2016-10-28 criteria provided, single submitter clinical testing The p.E84* variant (also known as c.250G>T), located in coding exon 5 of the TNNI3 gene, results from a G to T substitution at nucleotide position 250. This changes the amino acid from a glutamic acid to a stop codon within coding exon 5. This alteration was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), Exome Aggregation Consortium (ExAC), and 1000 Genomes Project. In the ESP, this variant was not observed in 5481 samples (10962 alleles) with coverage at this position. This alteration is expected to result in either premature protein truncation or haploinsufficiency by nonsense-mediated mRNA decay. Haploinsufficiency for TNNI3 has not been clearly established as a mechanism of disease, however, as most mutations in troponin proteins are thought to alter the calcium sensitivity of cardiomyocyte contraction. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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