ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del) (rs397517851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized 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; Familial hypertrophic cardiomyopathy 20 2018-07-24 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs771017447, ExAC 0.003%). This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 47896). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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