ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1106G>A (p.Cys369Tyr)

dbSNP: rs758381888
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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 RCV002048032 SCV002292678 uncertain significance Immunodeficiency 104 2021-04-12 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IL7R protein function. This variant has not been reported in the literature in individuals with IL7R-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 369 of the IL7R protein (p.Cys369Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.
Ambry Genetics RCV002545499 SCV003630153 uncertain significance Inborn genetic diseases 2022-07-13 criteria provided, single submitter clinical testing The c.1106G>A (p.C369Y) alteration is located in exon 8 (coding exon 8) of the IL7R gene. This alteration results from a G to A substitution at nucleotide position 1106, causing the cysteine (C) at amino acid position 369 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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