ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.2528C>T (p.Pro843Leu) (rs764302249)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483232 SCV000574007 uncertain significance not provided 2017-03-15 criteria provided, single submitter clinical testing The P843L variant has not been published aspathogenic or been reported as benign to our knowledge. It is not observed at a significant frequency in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P843Lvariant is a semi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. Moreover, this substitution occurs at a position that is conserved across species,and two of three in silico models predict this variant is probably damaging to the protein structure/function.Nonetheless, this variant lacks observation in a significant number of affected individuals, segregation data, andfunctional evidence, all of which would further clarify pathogenicity.

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