ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr)

gnomAD frequency: 0.00005  dbSNP: rs778229878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV000978621 SCV004102800 likely benign X-linked severe combined immunodeficiency 2023-11-14 reviewed by expert panel curation The NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) is a missense variant that has been reported in ClinVar, without patient information, however it has not been reported in the literature to our knowledge. It occurs at an intermediate allele frequency, with a popmax filtering allele frequency in gnomAD v2.1.1 of 0.0001413 (based on 6/14830 alleles in the East Asian population) which is below the SCID VCEP established threshold of >0.00249 for BS1 and above the PM2 threshold of <0.000124. Three adult hemizygous males with this variant are present in the East Asian population in gnomADv2.1.1 (BS2). In summary, this variant is classified as Likely Benign. Criteria applied: BS2 (VCEP specifications version 1).
Labcorp Genetics (formerly Invitae), Labcorp RCV000978621 SCV001126552 benign X-linked severe combined immunodeficiency 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000978621 SCV002087231 likely benign X-linked severe combined immunodeficiency 2021-01-11 no assertion criteria provided clinical testing

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