ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) (rs201067154)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548885 SCV000641813 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 RCV000548885 SCV000898670 uncertain significance Vici syndrome 2018-11-13 criteria provided, single submitter clinical testing EPG5 NM_020964.2 exon2 p.Ala72Thr (c.214G>A): This variant has not been reported in the literature but is present in 0.3% (86/30602) of South Asian alleles including 2 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/18-43535154-C-T). This variant is present in ClinVar (Variation ID:466241). This variant amino acid threonine (Thr) is present in 4 species (alpaca, platypus, saker falcon, peregrine falcon) 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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