ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.392A>G (p.Gln131Arg) (rs397517858)

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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 RCV000041178 SCV000064869 uncertain significance not specified 2012-08-13 criteria provided, single submitter clinical testing The Gln131Arg variant in NEXN has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gl n131Arg variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. A different variant at this position (Gln13 1Glu) has been identified in a family with HCM, suggesting that a change of this amino acid may not be tolerated (Wang 2010). Additional information is needed t o fully assess the clinical significance of the Gln131Arg variant.

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