ClinVar Miner

Submissions for variant NM_000246.3(CIITA):c.931A>G (p.Met311Val) (rs140139362)

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Total submissions: 3
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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 RCV000767937 SCV000898612 uncertain significance Bare lymphocyte syndrome 2 2018-12-03 criteria provided, single submitter clinical testing CIITA NM_000246.3 exon 9 p.Met311Val (c.931A>G): This variant has not been reported in the literature and is present in 0.2% (61/24968) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/16-10997746-A-G). This variant amino acid Valine (Val) is present in several species including multiple primates and other mammals, and it 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.
Invitae RCV000767937 SCV001121701 likely benign Bare lymphocyte syndrome 2 2020-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000767937 SCV001462167 likely benign Bare lymphocyte syndrome 2 2020-04-24 no assertion criteria provided clinical testing

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