ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)

gnomAD frequency: 0.00042  dbSNP: rs373391330
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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 RCV000809793 SCV000949968 uncertain significance Nemaline myopathy 9 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 486 of the KLHL41 protein (p.Ser486Phe). This variant is present in population databases (rs373391330, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with KLHL41-related conditions. ClinVar contains an entry for this variant (Variation ID: 653932). 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 RCV002537318 SCV003691686 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.1457C>T (p.S486F) alteration is located in exon 4 (coding exon 4) of the KLHL41 gene. This alteration results from a C to T substitution at nucleotide position 1457, causing the serine (S) at amino acid position 486 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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