ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72994G>T (p.Val24332Phe)

gnomAD frequency: 0.00001  dbSNP: rs876658081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222717 SCV000272748 uncertain significance not specified 2015-08-12 criteria provided, single submitter clinical testing The p.Val21764Phe variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Val21764Phe variant is uncertain.
Illumina Laboratory Services, Illumina RCV001270749 SCV001451498 uncertain significance Dilated cardiomyopathy 1G 2019-03-20 criteria provided, single submitter clinical testing The TTN c.72994G>T (p.Val24332Phe) variant is a missense variant. A literature search was performed for the gene, cDNA, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database. Based on the limited evidence, the p.Val24332Phe variant is classified as a variant of uncertain significance for dilated cardiomyopathy, dominant.

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