ClinVar Miner

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

dbSNP: rs864622051
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000204423 SCV001585169 pathogenic Alpha-1-antitrypsin deficiency 2024-06-09 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. Loss-of-function variants in SERPINA1 are known to be pathogenic (PMID: 25425243). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with alpha-1 antitrypsin deficiency (PMID: 31307431). This variant is also known as Q156X. ClinVar contains an entry for this variant (Variation ID: 219364). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000204423 SCV004203118 pathogenic Alpha-1-antitrypsin deficiency 2023-10-04 criteria provided, single submitter clinical testing

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