ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.2000G>A (p.Cys667Tyr) (rs794729087)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183675 SCV000236144 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing The C667Y variant has been observed in one family in which it segregated with LVNC in three affected relatives. Limited data presented in an abstract suggested the variant resulted in abnormal cytoplasmic protein aggregation (Yuen et al., 2014); however, to our knowledge, this finding was not peer-reviewed, and it is unknown whether experimental conditions replicate the effect of the variant in vivo. The C667Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, this variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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