ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.724C>G (p.Pro242Ala)

gnomAD frequency: 0.00001  dbSNP: rs1312120521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226323 SCV001398634 uncertain significance Nemaline myopathy 8 2022-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 242 of the KLHL40 protein (p.Pro242Ala). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 953950).

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