ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.631del (p.Ala211fs)

dbSNP: rs752734208
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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 RCV000815537 SCV000955996 pathogenic Nemaline myopathy 8 2020-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala211Leufs*47) in the KLHL40 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KLHL40 are known to be pathogenic (PMID: 23746549). This variant has not been reported in the literature in individuals with KLHL40-related conditions. ClinVar contains an entry for this variant (Variation ID: 658674).

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