ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107457_107459dup (p.Ser35820_Val35821insSer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004682836 SCV005180567 uncertain significance Cardiovascular phenotype 2024-03-24 criteria provided, single submitter clinical testing The c.80262_80264dupGTC variant (also known as p.S26755dup), located in coding exon 189 of the TTN gene, results from an in-frame duplication of GTC at nucleotide positions 80262 to 80264. This results in the duplication of an extra residue between codons 26755 and 26756. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this alteration remains unclear.

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