ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)

dbSNP: rs864622043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HerediLab, Inc. RCV000204775 SCV000259188 pathogenic Alpha-1-antitrypsin deficiency 2015-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000204775 SCV000754979 pathogenic Alpha-1-antitrypsin deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu370Lysfs*8) in the SERPINA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the SERPINA1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SERPINA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 219353). This variant disrupts a region of the SERPINA1 protein in which other variant(s) (p.Glu387Argfs*14) have been determined to be pathogenic (PMID: 9070606, 11334395, 22016686; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000204775 SCV004203123 likely pathogenic Alpha-1-antitrypsin deficiency 2024-01-28 criteria provided, single submitter clinical testing
Child Health and Human Development Program, Research Institute of the McGill University Health Center RCV000204775 SCV001424551 pathogenic Alpha-1-antitrypsin deficiency no assertion criteria provided clinical testing The deletion/insertion [c.1108_1115delinsAAAAACA (p.Glu370Lysfs*31)] in SERPINA1 was identified in a 35 year old male with history of smoking and being treated for bullous emphysema with intravenous AAT replacement therapy. His AAT levels were 0.80 g/L, 0.82 g/L and 0.60 g/L. The AAT reference range at our institution is 0.99-2.59 g/L. AAT level was consistent with one functioning allele, which matches the heterozygous [c.1108_1115delinsAAAAACA (p.Glu370Lysfs*31)] detected by sequencing.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.