ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1767+5G>A

dbSNP: rs1753684353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906219 SCV002170332 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1397645). This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 20 of the HSD17B4 gene. It does not directly change the encoded amino acid sequence of the HSD17B4 protein. It affects a nucleotide within the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.
GeneDx RCV004591623 SCV005081475 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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