ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys)

gnomAD frequency: 0.00014  dbSNP: rs372183592
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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 RCV001303422 SCV001492668 uncertain significance Nemaline myopathy 9 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 214 of the KLHL41 protein (p.Asn214Lys). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1006388). This variant has not been reported in the literature in individuals affected with KLHL41-related conditions. This variant is present in population databases (rs372183592, gnomAD 0.04%).
Ambry Genetics RCV003284157 SCV003954081 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.642C>G (p.N214K) alteration is located in exon 1 (coding exon 1) of the KLHL41 gene. This alteration results from a C to G substitution at nucleotide position 642, causing the asparagine (N) at amino acid position 214 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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