ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) (rs864622051)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HerediLab, Inc. RCV000204423 SCV000259199 pathogenic Alpha-1-antitrypsin deficiency 2015-08-17 criteria provided, single submitter research
Counsyl RCV000204423 SCV000485961 likely pathogenic Alpha-1-antitrypsin deficiency 2016-03-08 criteria provided, single submitter clinical testing
Invitae RCV000204423 SCV001585169 pathogenic Alpha-1-antitrypsin deficiency 2020-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln180*) in the SERPINA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with alpha-1 antitrypsin deficiency (PMID: 31307431). ClinVar contains an entry for this variant (Variation ID: 219364). Loss-of-function variants in SERPINA1 are known to be pathogenic (PMID: 25425243). For these reasons, this variant has been classified as Pathogenic.

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