ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51118A>G (p.Ile17040Val)

gnomAD frequency: 0.00002  dbSNP: rs727505039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156466 SCV000206185 likely benign not specified 2014-04-04 criteria provided, single submitter clinical testing Ile14472Val in exon 219 of TTN This variant is not expected to have clinical sig nificance due to a lack of evolutionary conservation. Of note, several mammalian , bird and fish species have a valine (Val) at this position despite high nearby amino acid conservation.

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