ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser)

gnomAD frequency: 0.00011  dbSNP: rs140056720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701970 SCV000830797 uncertain significance Nemaline myopathy 8 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 30 of the KLHL40 protein (p.Gly30Ser). This variant is present in population databases (rs140056720, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. ClinVar contains an entry for this variant (Variation ID: 578842). 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.
GeneDx RCV002245609 SCV002513119 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000701970 SCV004235920 uncertain significance Nemaline myopathy 8 2023-05-17 criteria provided, single submitter clinical testing

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