ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter)

dbSNP: rs2125844563
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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 RCV001903694 SCV002176664 pathogenic Nemaline myopathy 8 2021-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu75*) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. For these reasons, this variant has been classified as Pathogenic.

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