Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039948 | SCV000063639 | uncertain significance | not specified | 2012-05-09 | criteria provided, single submitter | clinical testing | The Ser5747Gly variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant was absent from 2 very large and broad populations (European and African American) screened by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS). This low frequency is cons istent with a disease causing role; however, the affected amino acid (serine, Se r) at is only moderately well conserved in evolution, raising the possibility th at a change would be tolerated. Other computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support f or or against an impact to the protein. In summary, additional information is ne eded to fully assess the clinical significance of the Ser5747Gly variant. |