Submissions for variant NM_138413.4(HOGA1):c.912C>A (p.Ala304=)

gnomAD frequency: 0.29673  dbSNP: rs12261752

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000186471	SCV000366326	benign	Primary hyperoxaluria type 3	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000604692	SCV000711764	benign	not specified	2016-02-02	criteria provided, single submitter	clinical testing	p.Ala304Ala in exon 7 of HOGA1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 39.9% (6581/16500) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs12261752).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520020	SCV001729014	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000186471	SCV001736829	benign	Primary hyperoxaluria type 3	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001520020	SCV001896566	benign	not provided	2018-08-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000186471	SCV001933078	benign	Primary hyperoxaluria type 3	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001520020	SCV005318358	benign	not provided		criteria provided, single submitter	not provided
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000186471	SCV000239829	uncertain significance	Primary hyperoxaluria type 3	2014-11-27	no assertion criteria provided	research
Natera, Inc.	RCV000186471	SCV001455554	benign	Primary hyperoxaluria type 3	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604692	SCV001739735	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000604692	SCV001954592	benign	not specified		no assertion criteria provided	clinical testing