Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041166 | SCV000064857 | uncertain significance | not specified | 2012-05-31 | criteria provided, single submitter | clinical testing | The Lys586del variant in NEXN has not been reported in the literature nor previo usly identified by our laboratory. This in-frame deletion removes the lysine (Ly s) residue at position 586. The NEXN gene has not been widely sequenced and the refore the types of variants leading to disease are not yet well characterized. Of note, our laboratory has identified single amino acid deletions in 3 individu als with DCM. In summary, additional information is needed to fully assess the c linical significance of the Lys586del variant. |
Invitae | RCV000795836 | SCV000935314 | uncertain significance | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2018-07-21 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 47896). This variant is present in population databases (rs771017447, ExAC 0.003%). This variant, c.1756_1758delAAG, results in the deletion of 1 amino acid of the NEXN protein (p.Lys586del), but otherwise preserves the integrity of the reading frame. 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. |
Gene |
RCV001762124 | SCV001989004 | uncertain significance | not provided | 2019-10-16 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in an individual with dilated cardiomyopathy, however, detailed clinical and segregation information was not provided, and it is unclear if this individual may have had variants identified in other genes (Walsh et al., 2017); This variant is associated with the following publications: (PMID: 27532257) |