ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.433T>A (p.Cys145Ser)

dbSNP: rs781200087
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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 RCV001993792 SCV002249908 uncertain significance Nemaline myopathy 8 2021-09-02 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 145 of the KLHL40 protein (p.Cys145Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine.

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