ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7492A>G (p.Thr2498Ala)

dbSNP: rs943280773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841347 SCV000983309 likely benign not provided 2018-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002381897 SCV002670651 uncertain significance Cardiovascular phenotype 2020-08-04 criteria provided, single submitter clinical testing The p.T2452A variant (also known as c.7354A>G), located in coding exon 30 of the TTN gene, results from an A to G substitution at nucleotide position 7354. The threonine at codon 2452 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other 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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