ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.77T>G (p.Met26Arg)

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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 RCV002613965 SCV002968708 uncertain significance Nemaline myopathy 8 2022-06-27 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 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This variant is present in population databases (rs750482533, gnomAD 0.007%). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 26 of the KLHL40 protein (p.Met26Arg).

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