ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1412_1415delinsC (p.Gly471_Ser472delinsAla)

dbSNP: rs1427058930
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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 RCV000803688 SCV000943571 uncertain significance Nemaline myopathy 8 2022-06-04 criteria provided, single submitter clinical testing This variant, c.1412_1415delinsC, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the KLHL40 protein (p.Gly471_Ser472delinsAla). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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