ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.931A>G (p.Met311Val)

gnomAD frequency: 0.00050  dbSNP: rs140139362
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Total submissions: 5
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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 MHC class II deficiency 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000767937 SCV001121701 likely benign MHC class II deficiency 2024-11-05 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224398 SCV003919803 uncertain significance MHC class II deficiency; Rheumatoid arthritis 2021-03-30 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.
PreventionGenetics, part of Exact Sciences RCV003413555 SCV004115206 uncertain significance CIITA-related disorder 2023-04-13 criteria provided, single submitter clinical testing The CIITA c.931A>G variant is predicted to result in the amino acid substitution p.Met311Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.24% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-10997746-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000767937 SCV001462167 likely benign MHC class II deficiency 2020-04-24 no assertion criteria provided clinical testing

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