ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)

dbSNP: rs921982028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000779150 SCV004203126 likely pathogenic Alpha-1-antitrypsin deficiency 2023-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000779150 SCV001226863 pathogenic Alpha-1-antitrypsin deficiency 2020-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed as heterozygous in an individual with cough, dyspnea, wheeze, and asthma (PMID: 25425243). ClinVar contains an entry for this variant (Variation ID: 632223). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr204Serfs*11) 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).

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