ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3370A>G (p.Thr1124Ala)

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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 RCV002445545 SCV002611731 uncertain significance Cardiovascular phenotype 2019-10-11 criteria provided, single submitter clinical testing The p.T1078A variant (also known as c.3232A>G), located in coding exon 18 of the TTN gene, results from an A to G substitution at nucleotide position 3232. The threonine at codon 1078 is replaced by alanine, an amino acid with similar properties. 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.

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