Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155850 | SCV000205561 | likely benign | not specified | 2013-06-14 | criteria provided, single submitter | clinical testing | Asp22013Glu in exon 275 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, bushbaby, kangaroo rat, and hedgehog have a glutamic acid (Glu) at this pos ition despite high nearby amino acid conservation. In addition, computational an alyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact t o the protein. |