Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154982 | SCV000204664 | uncertain significance | not specified | 2015-11-19 | criteria provided, single submitter | clinical testing | The p.Ala5832Val variant in TTN has been identified by our laboratory in 1 Cauca sian individual with HCM and Afib. This variant has been identified in 1/9786 Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs374625641). Computational prediction tools and conservation analysis suggest that the p.Ala5832Val variant may not impact the protein, thou gh this information is not predictive enough to rule out pathogenicity. In summa ry, the clinical significance of the p.Ala5832Val variant is uncertain. |
Fulgent Genetics, |
RCV002484930 | SCV002789109 | 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 | 2021-11-01 | criteria provided, single submitter | clinical testing |