Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588064 | SCV000697559 | uncertain significance | not provided | 2017-03-20 | criteria provided, single submitter | clinical testing | Variant summary: The CD3E c.470C>T (p.Ala157Val) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 35/121232 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0031749 (33/10394). This frequency is about 8 times the estimated maximal expected allele frequency of a pathogenic CD3E variant (0.0004082), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) - possibly benign until additional information becomes available. |
| Invitae | RCV001087697 | SCV001006056 | likely benign | Immunodeficiency 18 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV001087697 | SCV003829384 | uncertain significance | Immunodeficiency 18 | 2020-02-19 | criteria provided, single submitter | clinical testing | |
| Center for Genomics, |
RCV001087697 | SCV003919780 | uncertain significance | Immunodeficiency 18 | 2023-01-18 | criteria provided, single submitter | clinical testing | This variant has been reported in the literature in at least 1 individual with Celiac disease (Mansour 2022 PMID:35237542). This variant is present in the Genome Aggregation Database (Highest reported MAF 0.2% [121/41424]; https://gnomad.broadinstitute.org/variant/11-118313824-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID: 496074). This variant amino acid Valine (Val) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |