Submissions for variant NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)

gnomAD frequency: 0.14167  dbSNP: rs11539471

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214252	SCV000269158	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Trp536Arg in exon 19 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 30.1% (1324/4404) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs11539471).
PreventionGenetics, part of Exact Sciences	RCV000214252	SCV000304073	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263505	SCV000452131	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.
Illumina Laboratory Services, Illumina	RCV000299859	SCV000452132	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000214252	SCV000728565	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676082	SCV001158888	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517002	SCV001725386	benign	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000263505	SCV001762540	benign	Perrault syndrome 1	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000299859	SCV001762872	benign	Bifunctional peroxisomal enzyme deficiency	2021-07-10	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676082	SCV000801818	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000299859	SCV001458668	benign	Bifunctional peroxisomal enzyme deficiency	2020-09-16	no assertion criteria provided	clinical testing