ClinVar Miner

Submissions for variant NC_000011.9:g.(?_117856768)_(118972385_?)del

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031688 SCV001194994 pathogenic Immunodeficiency 19 2019-04-07 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CD3D gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with CD3D-related conditions. Loss-of-function variants in CD3D are known to be pathogenic (PMID: 14602880, 15546002). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001382626 SCV001581469 pathogenic Combined immunodeficiency due to CD3gamma deficiency 2019-04-07 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CD3G gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with CD3G-related conditions. Loss-of-function variants in CD3G are known to be pathogenic (PMID: 1635567, 17277165, 24910257). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001386823 SCV001587182 pathogenic Inflammatory bowel disease 28 2019-04-07 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the IL10RA gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with IL10RA-related conditions. Loss-of-function variants in IL10RA are known to be pathogenic (PMID: 24216686, 25373860, 26822028). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001389243 SCV001590519 pathogenic Immunodeficiency 18 2019-04-07 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CD3E gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with CD3E-related conditions. Loss-of-function variants in CD3E are known to be pathogenic (PMID: 8490660, 15546002). For these reasons, this variant has been classified as Pathogenic.

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