ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.248A>T (p.Asn83Ile) (rs1554816646)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522035 SCV000619366 uncertain significance not provided 2017-07-24 criteria provided, single submitter clinical testing The N83I variant has not beenpublished as pathogenic or been reported as benign to our knowledge. Furthermore, it is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N83Ivariant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as theseresidues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that isconserved across species, and in silico analysis predicts this variant is probably damaging to the proteinstructure/function. Nonetheless, this variant lacks observation in a significant number of affected individuals,segregation data, and functional evidence, which would further clarify its pathogenicity.

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