ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.220A>C (p.Ile74Leu) (rs727503342)

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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 RCV000151558 SCV000199696 uncertain significance not specified 2014-07-24 criteria provided, single submitter clinical testing The Ile74Leu variant in NEXN has not been previously reported in individuals wit h cardiomyopathy and was absent from large population studies. Isoleucine (Ile) at position 74 is not conserved in evolution and 1 mammal as well as 1 fish spec ies carry a leucine (Leu) at this position, raising the possibility that this ch ange may be tolerated. However, this information is not predictive enough to rul e out pathogenicity. In summary, the clinical significance of the Ile74Leu varia nt is uncertain.

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