Submissions for variant NM_000027.4(AGA):c.24T>C (p.Pro8=)

gnomAD frequency: 0.00004  dbSNP: rs34413111

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958765	SCV001105638	likely benign	Aspartylglucosaminuria	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002427394	SCV002742762	likely benign	Inborn genetic diseases	2019-10-23	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.
Natera, Inc.	RCV000958765	SCV001461152	uncertain significance	Aspartylglucosaminuria	2020-01-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905791	SCV004721111	likely benign	AGA-related disorder	2019-03-22	no assertion criteria provided	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).