Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169461 | SCV000220891 | likely pathogenic | Alpha-1-antitrypsin deficiency | 2014-11-14 | criteria provided, single submitter | literature only | |
Eurofins Ntd Llc |
RCV000593270 | SCV000706472 | likely pathogenic | not provided | 2017-02-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000169461 | SCV002245454 | pathogenic | Alpha-1-antitrypsin deficiency | 2023-08-08 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 2 of the SERPINA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SERPINA1 are known to be pathogenic (PMID: 25425243). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Studies have shown that disruption of this splice site alters SERPINA1 gene expression (PMID: 8364536). ClinVar contains an entry for this variant (Variation ID: 189064). This variant has not been reported in the literature in individuals affected with SERPINA1-related conditions. This variant is present in population databases (rs751235320, gnomAD 0.0009%). |
Baylor Genetics | RCV000169461 | SCV004203125 | likely pathogenic | Alpha-1-antitrypsin deficiency | 2023-07-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000019606 | SCV000039904 | other | PI NULL(WEST) | 2016-07-15 | no assertion criteria provided | literature only | |
Department of Laboratory Medicine and Genetics, |
RCV000169461 | SCV000608321 | pathogenic | Alpha-1-antitrypsin deficiency | 2014-12-08 | no assertion criteria provided | curation |