ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)

gnomAD frequency: 0.41131  dbSNP: rs11205
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Total submissions: 13
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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 RCV000221678 SCV000269160 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ile584Val in exon 20 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 40.9% (3518/8600) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs11205).
PreventionGenetics, part of Exact Sciences RCV000221678 SCV000304074 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385277 SCV000452139 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 RCV000290935 SCV000452140 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 RCV000221678 SCV000728566 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.
Eurofins Ntd Llc (ga) RCV000221678 SCV000856231 benign not specified 2017-08-08 criteria provided, single submitter clinical testing
Mendelics RCV000290935 SCV001136962 benign Bifunctional peroxisomal enzyme deficiency 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000676084 SCV001158877 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517003 SCV001725387 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000290935 SCV001762541 benign Bifunctional peroxisomal enzyme deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000385277 SCV001762542 benign Perrault syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676084 SCV000801820 benign not provided 2015-10-23 no assertion criteria provided clinical testing
Natera, Inc. RCV000290935 SCV001458671 benign Bifunctional peroxisomal enzyme deficiency 2020-09-16 no assertion criteria provided clinical testing

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