ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.1757G>A (p.Arg586His)

gnomAD frequency: 0.00006  dbSNP: rs762482219
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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 RCV001203450 SCV001374616 uncertain significance Nemaline myopathy 9 2022-08-23 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. ClinVar contains an entry for this variant (Variation ID: 934954). This variant has not been reported in the literature in individuals affected with KLHL41-related conditions. This variant is present in population databases (rs762482219, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 586 of the KLHL41 protein (p.Arg586His).
Ambry Genetics RCV004986937 SCV005607328 uncertain significance Inborn genetic diseases 2024-09-04 criteria provided, single submitter clinical testing The c.1757G>A (p.R586H) alteration is located in exon 6 (coding exon 6) of the KLHL41 gene. This alteration results from a G to A substitution at nucleotide position 1757, causing the arginine (R) at amino acid position 586 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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