ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=)

gnomAD frequency: 0.00003  dbSNP: rs143329723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865394 SCV001006349 likely benign Alpha-1-antitrypsin deficiency 2023-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928376 SCV004739807 likely benign SERPINA1-related disorder 2019-05-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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