ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val)

gnomAD frequency: 0.03090  dbSNP: rs28943594
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Total submissions: 9
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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 RCV000221985 SCV000269163 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Met753Val in exon 25 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 9.2% (405/4404) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs28943594).
PreventionGenetics, part of Exact Sciences RCV000221985 SCV000304077 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268330 SCV000452151 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 RCV000307098 SCV000452152 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.
Invitae RCV001082359 SCV000636109 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000221985 SCV000729829 benign not specified 2017-09-18 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.
Athena Diagnostics RCV000676087 SCV000842387 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676087 SCV000801823 benign not provided 2015-12-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000307098 SCV001458675 benign Bifunctional peroxisomal enzyme deficiency 2020-09-16 no assertion criteria provided clinical testing

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