ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1574-1G>A

gnomAD frequency: 0.00001  dbSNP: rs755412738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411356 SCV000486529 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2016-06-21 criteria provided, single submitter clinical testing
Invitae RCV001865269 SCV002297781 likely pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-12-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 of the HSD17B4 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 HSD17B4 are known to be pathogenic (PMID: 11810648, 16385454, 20673864). This variant is present in population databases (rs755412738, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. ClinVar contains an entry for this variant (Variation ID: 371062). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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