ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1761C>G (p.Asn587Lys)

dbSNP: rs34020089
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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 RCV000696890 SCV000825471 uncertain significance Nemaline myopathy 8 2022-06-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 574846). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 587 of the KLHL40 protein (p.Asn587Lys). This variant is present in population databases (rs34020089, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions.
GeneDx RCV001550178 SCV001770466 uncertain significance not provided 2020-08-06 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

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