ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64187C>G (p.Ala21396Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005207597 SCV005849039 uncertain significance Dilated cardiomyopathy 1G 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.64187C>G(p.Ala21396Gly) in TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with 0.0004% allele frequency in gnomAD Exomes. The amino acid Ala at position 21396 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen-Benign and MutationTaster-disease causing) predicts conflicting evidence on protein structure and function for this variant.The reference amino acid p.Ala21396Gly in TTN is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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