ClinVar Miner

Submissions for variant NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)

gnomAD frequency: 0.00016  dbSNP: rs28929488
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Total submissions: 5
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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, Al Jalila Childrens Speciality Hospital RCV000018496 SCV001984212 uncertain significance Corticosteroid-binding globulin deficiency 2020-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity 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, BGI Genomics 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.

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