Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040268 | SCV000063959 | uncertain significance | not specified | 2012-06-30 | criteria provided, single submitter | clinical testing | The Ile12819Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory or in 2 large and broad populations (European and African American) screened by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). This low frequency is consistent with a disease causin g role but insufficient to establish this with confidence. The affected amino ac id is not well conserved in evolution, suggesting that a change may be tolerated . Other computational analyses (biochemical amino acid properties, AlignGVGD, Po lyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical signific ance of the Ile12819Thr variant. |
Invitae | RCV000553444 | SCV000643210 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726986 | SCV000704713 | uncertain significance | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing |