ClinVar Miner

Submissions for variant NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)

gnomAD frequency: 0.00001  dbSNP: rs199422211
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169162 SCV000220390 likely pathogenic Alpha-1-antitrypsin deficiency 2014-06-06 criteria provided, single submitter literature only
Invitae RCV000169162 SCV001232395 pathogenic Alpha-1-antitrypsin deficiency 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys241*) 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 present in population databases (rs199422211, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with SERPINA1-related conditions (PMID: 3257351, 26321041). This variant is also known as p.Lys217* and "Null Bellingham". ClinVar contains an entry for this variant (Variation ID: 17977). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000169162 SCV004203135 pathogenic Alpha-1-antitrypsin deficiency 2023-04-13 criteria provided, single submitter clinical testing
OMIM RCV000019581 SCV000039878 other PI NULL(BELLINGHAM) 2016-07-15 no assertion criteria provided literature only
OMIM RCV000019582 SCV000039879 other PI Q0(BELLINGHAM) 2016-07-15 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000169162 SCV000608325 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528835 SCV001741251 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528835 SCV001965583 pathogenic not provided no assertion criteria provided clinical testing

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