ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.996C>A (p.Ile332=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002602941 SCV003497203 likely benign Alpha-1-antitrypsin deficiency 2022-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161920 SCV003857045 likely benign Inborn genetic diseases 2023-02-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003936586 SCV004748642 likely benign SERPINA1-related disorder 2023-01-13 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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