ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.546C>T (p.Asn182=)

gnomAD frequency: 0.00016  dbSNP: rs113813309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592006 SCV000704793 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001398304 SCV001600073 likely benign Alpha-1-antitrypsin deficiency 2023-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350426 SCV002651186 likely benign Inborn genetic diseases 2021-02-26 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.

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