Submissions for variant NM_000414.4(HSD17B4):c.666C>G (p.Val222=)

gnomAD frequency: 0.00351  dbSNP: rs150677536

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180501	SCV000232956	benign	not specified	2014-12-19	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000180501	SCV000269167	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Val247Val in exon 10 of HSD17B4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.9% (40/4404) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs150677536).
PreventionGenetics, part of Exact Sciences	RCV003891750	SCV000304081	benign	HSD17B4-related condition	2021-03-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000274011	SCV000452111	likely benign	Bifunctional peroxisomal enzyme deficiency	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000332404	SCV000452112	benign	Perrault syndrome 1	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.
GeneDx	RCV001697129	SCV000723087	benign	not provided	2018-12-17	criteria provided, single submitter	clinical testing
Invitae	RCV000974778	SCV001122642	benign	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000274011	SCV002075404	benign	Bifunctional peroxisomal enzyme deficiency	2019-10-18	no assertion criteria provided	clinical testing