ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)

gnomAD frequency: 0.00222  dbSNP: rs141620200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000366637 SCV000342565 benign not specified 2016-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000766819 SCV000565551 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing Identified in large case control studies in several individuals with lung disease who also harbored the Z variant, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes, and at least one of the individuals had normal serum concentrations of AAT (Foil et al., 2019; Ortega et al., 2020); Reported in an individual with features of alpha-1-antitrypsin deficiency who was also homozygous for the Z allele, which explained the phenotype (Bengston et al., 2016); Reported in one individual with chronic respiratory disorder in whom no second SERPINA1 variant was identified (Duk et al., 2016); In a large study evaluating the rates of venous thromboembolism (VTE), the allele frequency of this variant was found to be 0.4% higher in individuals who had experienced VTE; the variant was seen in the homozygous state in at least one individual with VTE and in the compound heterozygous state in individuals with and without VTE, but detailed clinical information, including AAT serum levels, was not provided (Manderstedt et al., 2022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30223862, 25010111, 32810967, 30254761, 31661293, 26987331, 35263815)
Invitae RCV001081168 SCV000754980 likely benign Alpha-1-antitrypsin deficiency 2021-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000366637 SCV000966516 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala308Ser in exon 6 of SERPINA1: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (33/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs141620200).
Illumina Laboratory Services,Illumina RCV001081168 SCV001279506 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.

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