ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe)

dbSNP: rs2050179430
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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 RCV001281010 SCV001468413 uncertain significance Vici syndrome 2021-03-30 criteria provided, single submitter clinical testing EPG5 NM_020964.2 exon 16 p.Ser994Phe (c.2981C>T): This variant has not been reported in the literature and is not present in large control databases. This variant amino acid Phenylalanine (Phe) is present in 12 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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