ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.613C>T (p.Arg205Ter)

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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 RCV005085710 SCV005715855 pathogenic Nemaline myopathy 9 2024-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg205*) 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 present in population databases (rs768277184, gnomAD 0.0009%). 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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