ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.303-11T>A

gnomAD frequency: 0.00006  dbSNP: rs767897278
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042941 SCV001206650 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-10-14 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the HSD17B4 gene. It does not directly change the encoded amino acid sequence of the HSD17B4 protein. This variant is present in population databases (rs767897278, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of D-bifunctional protein deficiency (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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