Submissions for variant NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)

gnomAD frequency: 0.00035  dbSNP: rs138611390

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000372916	SCV000343676	uncertain significance	not provided	2016-08-05	criteria provided, single submitter	clinical testing
Invitae	RCV001088917	SCV001009638	likely benign	Alpha-1-antitrypsin deficiency	2023-12-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374482	SCV002686816	likely benign	Inborn genetic diseases	2019-07-17	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	RCV003930165	SCV004737795	likely benign	SERPINA1-related disorder	2022-09-02	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).