Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000800431 | SCV000940146 | pathogenic | Nemaline myopathy 9 | 2018-07-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KLHL41 are known to be pathogenic (PMID: 24268659). This variant has not been reported in the literature in individuals with KLHL41-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys432Asnfs*11) in the KLHL41 gene. It is expected to result in an absent or disrupted protein product. |