ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1957C>A (p.Pro653Thr)

dbSNP: rs199476071
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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 RCV001053944 SCV001218231 uncertain significance MHC class II deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 653 of the CIITA protein (p.Pro653Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs199476071, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. ClinVar contains an entry for this variant (Variation ID: 102995). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Human Evolutionary Genetics, Institut Pasteur RCV000089255 SCV000121736 untested not provided no assertion provided not provided Converted during submission to not provided.

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