ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)

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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 RCV002634389 SCV002955486 uncertain significance Nemaline myopathy 9 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 155 of the KLHL41 protein (p.Arg155Cys). This variant is present in population databases (rs200210332, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with KLHL41-related conditions. 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. 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.
Ambry Genetics RCV003365754 SCV004062245 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.463C>T (p.R155C) alteration is located in exon 1 (coding exon 1) of the KLHL41 gene. This alteration results from a C to T substitution at nucleotide position 463, causing the arginine (R) at amino acid position 155 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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