Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040117 | SCV000063808 | uncertain significance | not specified | 2015-02-25 | criteria provided, single submitter | clinical testing | The p.Pro9175Ser variant in TTN has been identified by our laboratory in 1 Cauca sian individual with HCM who carried a pathogenic variant in another gene. In ad dition, this variant was absent from large population studies. Proline (Pro) at position 9175 is not conserved in mammals or evolutionarily distant species, sug gesting that a change at this position may be tolerated. Additional computationa l prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro9175Ser variant is u ncertain. |
Fulgent Genetics, |
RCV002490556 | SCV002778411 | 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 | 2021-08-17 | criteria provided, single submitter | clinical testing |