ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) (rs782797599)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768135 SCV000899090 uncertain significance Severe congenital neutropenia 5, autosomal recessive 2018-11-19 criteria provided, single submitter clinical testing VPS45 NM_007259.4 exon 14 p.Tyr512Cys (c.1535A>G): This variant has not been reported in the literature but is present in 1/111598 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-150082652-A-G). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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