ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.278-1G>C

gnomAD frequency: 0.00004  dbSNP: rs149607031
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622594 SCV000741008 pathogenic Inborn genetic diseases 2015-07-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001783086 SCV002025032 pathogenic Testosterone 17-beta-dehydrogenase deficiency 2021-07-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821704 SCV002069203 pathogenic not provided 2020-09-28 criteria provided, single submitter clinical testing
Invitae RCV001821704 SCV003300073 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the HSD17B3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HSD17B3 are known to be pathogenic (PMID: 23796702, 25740850). This variant is present in population databases (rs149607031, gnomAD 0.009%). Disruption of this splice site has been observed in individuals with 17-beta-hydroxysteroid dehydrogenase type 3 deficiency (PMID: 8075637, 25740850, 27163392). This variant is also known as c.326-1G>C . ClinVar contains an entry for this variant (Variation ID: 492761). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001783086 SCV000025329 pathogenic Testosterone 17-beta-dehydrogenase deficiency 1994-05-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584223 SCV000692117 pathogenic Pseudohermaphroditism 2015-07-31 no assertion criteria provided clinical testing

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