ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1019G>C (p.Cys340Ser)

gnomAD frequency: 0.00001  dbSNP: rs758244161
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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 RCV000796391 SCV000935903 uncertain significance Nemaline myopathy 8 2019-05-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 340 of the KLHL40 protein (p.Cys340Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is present in population databases (rs758244161, ExAC 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KLHL40-related disease.

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