Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704887 | SCV000236157 | uncertain significance | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Laboratory for Molecular Medicine, |
RCV000183688 | SCV000713662 | uncertain significance | not specified | 2017-09-11 | criteria provided, single submitter | clinical testing | The p.X676HisextX9 variant in NEXN has not been previously reported in individua ls with cardiomyopathy but has been identified in 13/34248 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs794729094). This variant deletes the stop codon, replaces it with a Histi dine and extends the protein by 8 amino acids. The impact of this change on prot ein function is unknown. NEXN variants have been described in individuals with D CM and HCM but they are rare and overall poorly studied. In summary, the clinica l significance of the p.X676HisextX9 variant is uncertain. |
Invitae | RCV001043340 | SCV001207076 | uncertain significance | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2022-11-07 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs764404383, gnomAD 0.04%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 201946). This variant has not been reported in the literature in individuals affected with NEXN-related conditions. This sequence change disrupts the translational stop signal of the NEXN mRNA. It is expected to extend the length of the NEXN protein by 8 additional amino acid residues. |
Ambry Genetics | RCV002415786 | SCV002724424 | uncertain significance | Cardiovascular phenotype | 2021-05-17 | criteria provided, single submitter | clinical testing | The c.2026_*1delTAAT variant (also known as p.*676Hext*8) is located in coding exon 12 of the NEXN gene. This variant results from a deletion of 4 nucleotides from position 2026 into the 3' untranslated region. This alteration disrupts the stop codon of the NEXN gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 8 amino acids. The exact functional effect of the additional amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |