ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.879C>A (p.His293Gln)

gnomAD frequency: 0.00054  dbSNP: rs141095970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594222 SCV000708666 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532643 SCV003249357 likely benign Alpha-1-antitrypsin deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392441 SCV004119960 uncertain significance SERPINA1-related disorder 2023-10-11 criteria provided, single submitter clinical testing The SERPINA1 c.879C>A variant is predicted to result in the amino acid substitution p.His293Gln. This variant has been reported in a study of heavy smokers with emphysema or chronic obstructive lung disease (Ortega et al. 2020. PubMed ID: 31661293) and in an adult patient with hepatic cytolysis, cholestasis and cirrhosis of the liver (Renoux et al. 2018. PubMed ID: 30223862). This variant is reported in 0.18% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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