ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1430T>G (p.Ile477Ser) (rs727504658)

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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 RCV000155922 SCV000205633 uncertain significance not specified 2014-03-07 criteria provided, single submitter clinical testing The Ile477Ser variant in NEXN has now been identified by our laboratory in 1 Ash kenazi Jewish adult with DCM/ARVC and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. However, isoleucine (Ile) at pos ition 477 is not conserved in mammals or evolutionarily distant species, raising the possibility that a change at this position may be tolerated. Additional inf ormation is needed to fully assess the clinical significance of the Ile477Ser va riant.

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