ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.806G>A (p.Arg269Gln)

gnomAD frequency: 0.00002  dbSNP: rs770828570
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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 RCV001913151 SCV002169312 uncertain significance Nemaline myopathy 8 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1401822). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This variant is present in population databases (rs770828570, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 269 of the KLHL40 protein (p.Arg269Gln). 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 tolerated. 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.

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