ClinVar Miner

Submissions for variant NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)

dbSNP: rs1064794694
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484484 SCV000569745 pathogenic not provided 2022-08-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12555940, 15342248, 34765396)
Ambry Genetics RCV000623879 SCV000741370 likely pathogenic Inborn genetic diseases 2016-04-26 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001755724 SCV001994793 likely pathogenic HSD10 mitochondrial disease 2021-10-18 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274038 SCV002558977 pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
Breda Genetics srl RCV001755724 SCV002588729 likely pathogenic HSD10 mitochondrial disease 2021-07-20 criteria provided, single submitter clinical testing The variant c.439C>T (p.Arg147Cys) in the HSD17B10 gene, rs1064794694, reference transcript NM_001037811.2 is reported as likely pathogenic for a congenital disease in ClinVar (Variation ID: 420778) and in Global Variome shared LOVD 3.0 (genomic variant: #0000576627). There is no information on frequency in gnomAD. The nucleotide position is highly conserved across 35 mammalian species (GERP RS:5.81). In silico analysis indicates that the variant might be damaging.
CeGaT Center for Human Genetics Tuebingen RCV000484484 SCV004032944 likely pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing HSD17B10: PM2, PM6, PS4:Moderate, PP2
GenomeConnect, ClinGen RCV001755724 SCV002074966 not provided HSD10 mitochondrial disease no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 10-28-2020 by Lab or GTR ID UCLA Molecular Diagnostics Laboratory. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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