ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys)

gnomAD frequency: 0.00012  dbSNP: rs377564589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992255 SCV001144385 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869371 SCV002199776 uncertain significance Nemaline myopathy 8 2021-02-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KLHL40-related conditions. ClinVar contains an entry for this variant (Variation ID: 804978). This variant is present in population databases (rs377564589, ExAC 0.02%). This sequence change replaces asparagine with lysine at codon 359 of the KLHL40 protein (p.Asn359Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.

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