Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156250 | SCV000205966 | uncertain significance | not specified | 2013-12-26 | criteria provided, single submitter | clinical testing | The Glu29783Lys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Glutamic Acid (Glu) at positi on 29783 is not conserved in mammals or evolutionarily distant species, raising the possibility that a change at this position may be tolerated. Additional comp utational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical signific ance of the Glu28783Lys variant. |
Mayo Clinic Laboratories, |
RCV001508102 | SCV001714029 | uncertain significance | not provided | 2020-07-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002484949 | SCV002790160 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-12-06 | criteria provided, single submitter | clinical testing |