ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.1007C>G (p.Thr336Arg)

dbSNP: rs763384272
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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 RCV000822322 SCV000963120 uncertain significance Immunodeficiency 28 2021-04-25 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IFNGR2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with arginine at codon 336 of the IFNGR2 protein (p.Thr336Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine.

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