ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.544_545del (p.Ser182fs)

dbSNP: rs1384412486
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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 RCV001224859 SCV001397085 pathogenic Nemaline myopathy 8 2022-08-13 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: 952701). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ser182Glnfs*5) 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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