Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671941 | SCV000796983 | uncertain significance | Alpha-1-antitrypsin deficiency | 2018-01-05 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000671941 | SCV001277338 | uncertain significance | Alpha-1-antitrypsin deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV000671941 | SCV002220044 | uncertain significance | Alpha-1-antitrypsin deficiency | 2021-11-22 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 359 of the SERPINA1 protein (p.Lys359Glu). 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 variant has not been reported in the literature in individuals affected with SERPINA1-related conditions. This variant is also known as p.Lys335Glu or PI*ETokyo. ClinVar contains an entry for this variant (Variation ID: 556005). 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. 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, |
RCV000671941 | SCV002784665 | uncertain significance | Alpha-1-antitrypsin deficiency | 2021-09-25 | criteria provided, single submitter | clinical testing |