ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)

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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 RCV003747030 SCV004410052 pathogenic Nemaline myopathy 9 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp475*) in the KLHL41 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KLHL41 are known to be pathogenic (PMID: 24268659). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KLHL41-related conditions. For these reasons, this variant has been classified as Pathogenic.

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