ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)

dbSNP: rs193922347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030054 SCV000052709 likely pathogenic X-linked severe combined immunodeficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000030054 SCV002121753 pathogenic X-linked severe combined immunodeficiency 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt IL2RG protein function. ClinVar contains an entry for this variant (Variation ID: 36385). This variant is also known as c.328A>G. This missense change has been observed in individuals with severe combined immunodeficiency (PMID: 8961626, 10444186, 33628209). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 105 of the IL2RG protein (p.Tyr105Cys).

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