Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000148880 | SCV004678177 | uncertain significance | Alpha-1-antitrypsin deficiency | 2024-03-21 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 6 of the SERPINA1 protein (p.Ser6Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with SERPINA1-related conditions (PMID: 2227940). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Ser(-19)Leu. ClinVar contains an entry for this variant (Variation ID: 17970). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SERPINA1 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV000148880 | SCV002781991 | uncertain significance | Alpha-1-antitrypsin deficiency | 2022-02-16 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000596635 | SCV000708927 | uncertain significance | not provided | 2018-01-09 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000148880 | SCV000796829 | uncertain significance | Alpha-1-antitrypsin deficiency | 2018-01-08 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |
| Department of Laboratory Medicine and Genetics, |
RCV000148880 | SCV000608303 | pathogenic | Alpha-1-antitrypsin deficiency | 2014-12-08 | no assertion criteria provided | clinical testing | |
| CSER _CC_NCGL, |
RCV000148880 | SCV000190624 | uncertain significance | Alpha-1-antitrypsin deficiency | 2014-06-01 | no assertion criteria provided | research | |
| OMIM | RCV000019570 | SCV000039867 | other | PI Z(WREXHAM) | 2016-07-15 | no assertion criteria provided | literature only |