ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val)

gnomAD frequency: 0.00002  dbSNP: rs781928056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194384 SCV000247577 likely benign not specified 2015-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000766917 SCV000576915 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing The I334V variant in the HUWE1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I334V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. However, the I334V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I334V as a variant of uncertain significance.

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