ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.308C>T (p.Ala103Val)

gnomAD frequency: 0.00026  dbSNP: rs139212989
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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 RCV000698738 SCV000827420 uncertain significance Immunodeficiency 28 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 103 of the IFNGR2 protein (p.Ala103Val). This variant is present in population databases (rs139212989, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 576275). 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. 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 RCV002533538 SCV003536804 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.308C>T (p.A103V) alteration is located in exon 3 (coding exon 3) of the IFNGR2 gene. This alteration results from a C to T substitution at nucleotide position 308, causing the alanine (A) at amino acid position 103 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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