ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1480_1481insGA (p.Thr494fs)

dbSNP: rs775060894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928878 SCV002201067 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-04-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr494Argfs*31) in the HSD17B4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HSD17B4 are known to be pathogenic (PMID: 11810648, 16385454). This variant is present in population databases (rs775060894, ExAC 0.001%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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