ClinVar Miner

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

gnomAD frequency: 0.14167  dbSNP: rs11539471
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Total submissions: 11
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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
Invitae RCV001517002 SCV001725386 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-02-01 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

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