ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.752T>A (p.Leu251Gln)

gnomAD frequency: 0.00001  dbSNP: rs928500134
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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 RCV000704998 SCV000833975 uncertain significance Nemaline myopathy 8 2022-07-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 581235). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 251 of the KLHL40 protein (p.Leu251Gln).
Ambry Genetics RCV002533722 SCV003536061 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.752T>A (p.L251Q) alteration is located in exon 1 (coding exon 1) of the KLHL40 gene. This alteration results from a T to A substitution at nucleotide position 752, causing the leucine (L) at amino acid position 251 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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