ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2691G>T (p.Glu897Asp)

gnomAD frequency: 0.00003  dbSNP: rs764994021
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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 RCV000809893 SCV000950075 uncertain significance MHC class II deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 897 of the CIITA protein (p.Glu897Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with CIITA-related conditions. 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: "Probably 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.
Natera, Inc. RCV000809893 SCV002093747 uncertain significance MHC class II deficiency 2020-10-06 no assertion criteria provided clinical testing

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