ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.818dup (p.Lys275fs)

dbSNP: rs1575218831
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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 RCV000806157 SCV000946140 pathogenic Nemaline myopathy 8 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 650910). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys275Glufs*10) in the KLHL40 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KLHL40 are known to be pathogenic (PMID: 23746549).

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