ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.1416dup (p.Gly473fs)

dbSNP: rs749464576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782348 SCV002016814 likely pathogenic Nemaline myopathy 9 2021-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782348 SCV002245683 pathogenic Nemaline myopathy 9 2024-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly473Argfs*22) 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 (rs749464576, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with KLHL41-related conditions. ClinVar contains an entry for this variant (Variation ID: 1324628). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003892845 SCV004714667 likely pathogenic KLHL41-related disorder 2023-12-19 no assertion criteria provided clinical testing The KLHL41 c.1416dupA variant is predicted to result in a frameshift and premature protein termination (p.Gly473Argfs*22). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in KLHL41 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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