ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.631C>T (p.Pro211Ser)

gnomAD frequency: 0.00001  dbSNP: rs201764329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920312 SCV002184248 uncertain significance MHC class II deficiency 2023-07-10 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1410833). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 211 of the CIITA protein (p.Pro211Ser). This variant is present in population databases (rs201764329, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CIITA-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002478369 SCV002792830 uncertain significance MHC class II deficiency; Rheumatoid arthritis 2021-07-15 criteria provided, single submitter clinical testing

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