ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6439G>A (p.Ala2147Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002368790 SCV002656677 uncertain significance Cardiovascular phenotype 2019-09-09 criteria provided, single submitter clinical testing The p.A2101T variant (also known as c.6301G>A), located in coding exon 26 of the TTN gene, results from a G to A substitution at nucleotide position 6301. The alanine at codon 2101 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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.
Revvity Omics, Revvity RCV003138215 SCV003826606 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing

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