ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1152+2T>A

dbSNP: rs1575219191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808744 SCV000948862 likely pathogenic Nemaline myopathy 8 2022-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 653053). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 1 of the KLHL40 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in KLHL40 are known to be pathogenic (PMID: 23746549).

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