ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.299-3T>C

gnomAD frequency: 0.00001  dbSNP: rs397517856
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041175 SCV000064866 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing The 299-3T>C variant in NEXN has not been reported in the literature nor previou sly identified by our laboratory. This variant has also not been identified in large European American and African American populations by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS), though it may be common in ot her populations. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not pr edictive enough to rule out pathogenicity. Additional studies are needed to full y assess its clinical significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798221 SCV002043711 uncertain significance Cardiomyopathy 2020-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513573 SCV003028801 uncertain significance Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2022-07-28 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 47904). This variant has not been reported in the literature in individuals affected with NEXN-related conditions. This variant is present in population databases (rs397517856, gnomAD 0.003%). This sequence change falls in intron 4 of the NEXN gene. It does not directly change the encoded amino acid sequence of the NEXN protein. It affects a nucleotide within the consensus splice site.

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