ClinVar Miner

Submissions for variant NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) (rs199422211)

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Total submissions: 5
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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 2020-08-26 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. This variant is present in population databases (rs199422211, ExAC 0.003%). This variant has been observed in individuals affected with SERPINA1-related conditions (PMID: 3257351, 26321041). This variant is also known as p.Lys217* and Null Bellingham in the literature. ClinVar contains an entry for this variant (Variation ID: 17977). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in SERPINA1 are known to be pathogenic (PMID: 25425243). For these reasons, this variant has been classified as Pathogenic.
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

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