ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.581T>A (p.Val194Glu)

dbSNP: rs1250586231
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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 RCV001898975 SCV002173189 uncertain significance Nemaline myopathy 8 2021-12-24 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individuals with clinical features of nemaline myopathy (PMID: 23746549; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 194 of the KLHL40 protein (p.Val194Glu).

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