Submissions for variant NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)

gnomAD frequency: 0.71129  dbSNP: rs2230708

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000316598	SCV000352060	benign	Hyperprolinemia type 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000316598	SCV001716621	benign	Hyperprolinemia type 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000316598	SCV001768865	benign	Hyperprolinemia type 2	2021-07-14	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528711	SCV001740915	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528711	SCV001956613	benign	not specified		no assertion criteria provided	clinical testing