ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) (rs141620200)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000366637 SCV000342565 benign not specified 2016-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000766819 SCV000565551 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing The A308S variant in the SERPINA1 gene has been reported previously in a study on variation in plasma cortisol levels (Bolton et al., 2014), however no additional information was provided. This variant has also been reported in an individual with chronic respiratory disorder, however no second variant was identified and the authors describe this variant as a presumably non-pathogenic variant (Duk et al., 2016). Although not present in the homozygous state, the NHLBI Exome Sequencing Project reports A308S was observed in 33/8600 (0.38%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The A308S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A308S as a variant of uncertain significance.
Invitae RCV001081168 SCV000754980 likely benign Alpha-1-antitrypsin deficiency 2020-11-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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 Clinical Services Laboratory,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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