ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44816_44818CTC[1] (p.Pro14940del)

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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 RCV003306521 SCV004004271 uncertain significance Cardiovascular phenotype 2023-04-03 criteria provided, single submitter clinical testing The c.17624_17626delCTC variant (also known as p.P5875del) is located in coding exon 70 of the TTN gene. This variant results from an in-frame CTC deletion at nucleotide positions 17624 to 17626. This results in the in-frame deletion of a proline at codon 5875. 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). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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