ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg)

gnomAD frequency: 0.00022  dbSNP: rs200810691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651591 SCV000773445 uncertain significance Nemaline myopathy 8 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 66 of the KLHL40 protein (p.Pro66Arg). This variant is present in population databases (rs200810691, gnomAD 0.1%). 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: 541332). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV001560830 SCV001783316 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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