ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.249G>C (p.Glu83Asp) (rs372532824)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041172 SCV000064863 uncertain significance not specified 2012-11-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu83Asp varian t in NEXN has not been reported in the literature nor previously identified by o ur laboratory. This variant has also not been identified in large and broad Euro pean American and African American populations by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS). Glutamic acid (Glu) is not highly conse rved across evolutionarily distant species, and the change to Aspartic Acid (Asp ) is present in several species, increasing the likelihood that this change woul d be tolerated. Computational analyses (biochemical amino acid properties, Align GVGD, PolyPhen2, and SIFT) suggest that the Glu83Asp variant may not impact the protein, though this information is not predictive enough to rule out pathogenic ity. Although this data supports that the Glu83Asp variant may be benign, additi onal studies are needed to fully assess its clinical significance.

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