ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.511C>G (p.Leu171Val)

dbSNP: rs901206559
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905390 SCV002133982 uncertain significance MHC class II deficiency 2021-07-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CIITA-related conditions. This sequence change replaces leucine with valine at codon 171 of the CIITA protein (p.Leu171Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine.

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