Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000018496 | SCV001522660 | uncertain significance | Corticosteroid-binding globulin deficiency | 2019-03-12 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Al Jalila Children's Genomics Center, |
RCV000018496 | SCV001984212 | uncertain significance | Corticosteroid-binding globulin deficiency | 2020-01-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000018496 | SCV002019176 | likely pathogenic | Corticosteroid-binding globulin deficiency | 2022-02-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018496 | SCV000038778 | pathogenic | Corticosteroid-binding globulin deficiency | 2007-01-01 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000018496 | SCV001142444 | likely pathogenic | Corticosteroid-binding globulin deficiency | 2020-01-06 | no assertion criteria provided | curation | NM_001756.3:c.1165G>A in the SERPINA6 gene has an allele frequency of 0.007 in Ashkenazi Jewish subpopulation in the gnomAD database. It was detected in individual with autosomal recessive Corticosteroid-binding globulin deficiency, two homozygous c.1165G>A(PMID: 12780753; 20610591). Co-segregation evidence in a pedigree, two patients were affected and one sibling unaffected (PMID: 20610591). Pathogenic computational verdict because 9 pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster and REVEL. Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PP1_Moderate; PM3; PP4; PP3. |