ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.37T>C (p.Phe13Leu)

gnomAD frequency: 0.00001  dbSNP: rs1015272346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050625 SCV001214743 likely benign X-linked severe combined immunodeficiency 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553227 SCV003627652 uncertain significance Inborn genetic diseases 2022-06-30 criteria provided, single submitter clinical testing The c.37T>C (p.F13L) alteration is located in exon 1 (coding exon 1) of the IL2RG gene. This alteration results from a T to C substitution at nucleotide position 37, causing the phenylalanine (F) at amino acid position 13 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003405253 SCV004113750 uncertain significance IL2RG-related disorder 2023-02-20 criteria provided, single submitter clinical testing The IL2RG c.37T>C variant is predicted to result in the amino acid substitution p.Phe13Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in a male (hemizygous individual) in gnomAD (http://gnomad.broadinstitute.org/variant/X-70331353-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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