ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228651 SCV003925344 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2022-04-06 criteria provided, single submitter clinical testing The c.80294T>C p.(Val26765Ala) variant in TTN has not previously been reported in the literature or public variant repositories (ClinVar and LOVD), and is absent from population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.80294T>C variant is located in exon 326 of this 363-exon gene and predicted to replace a moderately conserved valine amino acid with alanine atposition 26765 in the A-band of the encoded protein. In silico predictions are inconclusive of the variant's effect (CADD v1.6 = 29.1, REVEL = 0.245); however, there are no functional studies to support or refute these predictions. Based on available evidence this c.80294T>C p.(Val26765Ala) variant identified in TTN is classified as a Variant of Uncertain Significance.

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