Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |