ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26377A>G (p.Thr8793Ala)

gnomAD frequency: 0.00002  dbSNP: rs776154251
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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 RCV000253086 SCV000318900 uncertain significance Cardiovascular phenotype 2013-10-04 criteria provided, single submitter clinical testing The p.T7549A variant (also known as c.22645A>G) is located in coding exon 87 of the TTN gene. This alteration results from an A to G substitution at nucleotide position 22645. The threonine at codon 7549 is replaced by alanine, an amino acid with some similar properties. ​ ​This amino acid position is not conserved on sequence alignment through sloth. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. In addition,This variant has been detected once in conjunction with a likely pathogenic variant in MYH7 by our laboratory.This variant is predicted to be benign by PolyPhen in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.T7549A remains unclear.

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