ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn)

gnomAD frequency: 0.00001  dbSNP: rs779190567
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Total submissions: 2
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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 RCV001514667 SCV004102802 likely benign X-linked severe combined immunodeficiency 2023-11-14 reviewed by expert panel curation The NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn) is a missense variant that has been reported in ClinVar (SCV001722571.2), 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 0.0003945 (based on 10/14743 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. Six 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. (VCEP specifications version 1).
Invitae RCV001514667 SCV001722571 benign X-linked severe combined immunodeficiency 2023-12-13 criteria provided, single submitter clinical testing

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