ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104505ACT[1] (p.Leu34837del)

dbSNP: rs754577440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002400736 SCV002669937 uncertain significance Cardiovascular phenotype 2020-02-20 criteria provided, single submitter clinical testing The c.77313_77315delACT variant (also known as p.L25772del) is located in coding exon 185 of the TTN gene. This variant results from an in-frame ACT deletion at nucleotide positions 77313 to 77315. This results in the in-frame deletion of a leucine at codon 25772. This amino acid position is well 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.
Revvity Omics, Revvity RCV003138231 SCV003819824 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing

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