ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.739+1G>A

dbSNP: rs1561456373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377343 SCV001574650 likely pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2020-10-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with HSD17B4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 10 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).
Baylor Genetics RCV001831338 SCV004192409 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831338 SCV002075405 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2020-06-02 no assertion criteria provided clinical testing

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