ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1372_1383del (p.Leu458_Met461del)

dbSNP: rs1553680747
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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 RCV000541869 SCV000654241 uncertain significance Nemaline myopathy 8 2017-11-14 criteria provided, single submitter clinical testing This variant, c.1372_1383delCTCTCCCACATG, results in the deletion of 4 amino acid(s) of the KLHL40 protein (p.Leu458_Met461del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a KLHL40-related disease. In summary, this variant has uncertain impact on KLHL40 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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