ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) (rs191244915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642217 SCV000763871 benign Vici syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000642217 SCV000898666 uncertain significance Vici syndrome 2017-12-18 criteria provided, single submitter clinical testing EPG5: NM_020964.2 exon 64 p.Met2499Val (c.7495A>G): This variant has not been reported in the literature but is present in 0.4% (115/24016) of African alleles, including 1 homozygote in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools suggest that this variant may not 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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