ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)

gnomAD frequency: 0.02248  dbSNP: rs1143650
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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 RCV000223502 SCV000269169 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr317Ser in exon 13 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 7.0% (307/4404) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1143650).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224881 SCV000281271 benign not provided 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000223502 SCV000304082 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265653 SCV000452117 likely benign Perrault syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000320748 SCV000452118 likely benign Bifunctional peroxisomal enzyme deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000223502 SCV000729762 benign not specified 2017-10-05 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.
Invitae RCV001084093 SCV001099415 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000224881 SCV000801813 benign not provided 2016-10-14 no assertion criteria provided clinical testing
Natera, Inc. RCV000320748 SCV001458664 benign Bifunctional peroxisomal enzyme deficiency 2020-09-16 no assertion criteria provided clinical testing

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