ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)

dbSNP: rs199422210
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000388199 SCV000345651 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001116057 SCV001274081 uncertain significance Alpha-1-antitrypsin deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001116057 SCV001649565 likely benign Alpha-1-antitrypsin deficiency 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348028 SCV002651151 likely benign Inborn genetic diseases 2024-01-30 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 RCV003967809 SCV004782149 likely benign SERPINA1-related disorder 2021-11-17 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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