ClinVar Miner

Submissions for variant NM_138638.5(CFL2):c.242G>A (p.Arg81Gln)

dbSNP: rs1885381246
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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 RCV001247372 SCV001420788 uncertain significance Nemaline myopathy 7 2022-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 971564). 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. This variant has not been reported in the literature in individuals affected with CFL2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 81 of the CFL2 protein (p.Arg81Gln).
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004587091 SCV005038544 likely pathogenic Centronuclear myopathy 2024-03-01 criteria provided, single submitter research PM1+PM2+PP2+PP3+PP4

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