ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe)

gnomAD frequency: 0.00124  dbSNP: rs1012938610
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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 RCV000548780 SCV000655052 uncertain significance Immunodeficiency 28 2022-09-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 13 of the IFNGR2 protein (p.Leu13Phe). This variant is present in population databases (no rsID available, gnomAD 0.2%), including at least one homozygous and/or hemizygous individual. 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: 474968). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen RCV001200268 SCV001371179 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024304 SCV004885840 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.37C>T (p.L13F) alteration is located in exon 1 (coding exon 1) of the IFNGR2 gene. This alteration results from a C to T substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003935529 SCV004750875 likely benign IFNGR2-related disorder 2024-01-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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