ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer)

dbSNP: rs1247404453
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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 RCV000705302 SCV000834292 pathogenic Nemaline myopathy 9 2017-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr57*) in the KLHL41 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KLHL41 are known to be pathogenic (PMID: 24268659). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with KLHL41-related disease. This variant is not present in population databases (ExAC no frequency).

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