ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49905ACCCAGTGA[1] (p.16635EPS[1])

dbSNP: rs942590648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732235 SCV000860158 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442557 SCV002732044 uncertain significance Cardiovascular phenotype 2019-08-07 criteria provided, single submitter clinical testing The c.22719_22727delACCCAGTGA variant (also known as p.E7573_S7575del), located in coding exon 92 of the TTN gene, results from an in-frame deletion of ACCCAGTGA at nucleotide positions 22719 to 22727. This results in the in-frame deletion of three amino acids (glutamic acid, phenylalanine and serine) at codons 7573 to 7575. These amino acid positions are 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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