ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1478ATG[1] (p.Asp494del) (rs1064796362)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484070 SCV000573011 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing The c.1481_1483delATG variant in the NEXN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1481_1483delATG variant causes an in-frame deletion of one amino acid, Aspartic acid 494, denoted p.Asp494del. This amino acid deletion occurs at a position where amino acids with similar properties to Aspartic acid are tolerated across species. The c.1481_1483delATG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1481_1483delATG as a variant of uncertain significance.

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