ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.140A>T (p.His47Leu)

dbSNP: rs759817120
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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 RCV001048114 SCV001212103 uncertain significance Nemaline myopathy 8 2022-07-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs759817120, gnomAD 0.003%). 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"). ClinVar contains an entry for this variant (Variation ID: 845112). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 47 of the KLHL40 protein (p.His47Leu).

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