ClinVar Miner

Submissions for variant NM_138638.5(CFL2):c.353C>G (p.Ala118Gly)

dbSNP: rs865927835
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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 RCV001858467 SCV002164227 uncertain significance Nemaline myopathy 7 2021-11-04 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 689581). 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 alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 118 of the CFL2 protein (p.Ala118Gly).
Institute of Human Genetics, University of Wuerzburg RCV000850335 SCV000992510 uncertain significance Muscle weakness no assertion criteria provided clinical testing

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