ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1732G>A (p.Val578Met)

gnomAD frequency: 0.00001  dbSNP: rs151195889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064825 SCV001229749 uncertain significance MHC class II deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 578 of the CIITA protein (p.Val578Met). This variant is not present in population databases (gnomAD no frequency). 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: 858851). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine 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.
Ambry Genetics RCV004963084 SCV005559406 uncertain significance Inborn genetic diseases 2024-10-11 criteria provided, single submitter clinical testing The c.1732G>A (p.V578M) 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 1732, causing the valine (V) at amino acid position 578 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001064825 SCV002090737 uncertain significance MHC class II deficiency 2021-07-06 no assertion criteria provided clinical testing

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