ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.275C>G (p.Ser92Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002750173 SCV003013447 pathogenic Nemaline myopathy 8 2022-03-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser92*) in the KLHL40 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KLHL40 are known to be pathogenic (PMID: 23746549). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency).

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