ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)

gnomAD frequency: 0.00008  dbSNP: rs553503699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511754 SCV001719050 benign MHC class II deficiency 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511754 SCV001781373 uncertain significance MHC class II deficiency 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568017 SCV003703708 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.2384G>A (p.R795Q) alteration is located in exon 11 (coding exon 11) of the CIITA gene. This alteration results from a G to A substitution at nucleotide position 2384, causing the arginine (R) at amino acid position 795 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001511754 SCV002093739 likely benign MHC class II deficiency 2020-10-20 no assertion criteria provided clinical testing

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