ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20263G>C (p.Val6755Leu)

dbSNP: rs876657599
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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 RCV000222915 SCV000270984 likely benign not specified 2015-03-30 criteria provided, single submitter clinical testing p.Val5511Leu in exon 66 of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 3 mammals (squirrel monkey, pika, tenrec) and 10 reptiles and fish have a leucine (Leu) at this position despite high nearby amino acid conservation. In a ddition, computational prediction tools do not suggest a high likelihood of impa ct to the protein.

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