ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)

dbSNP: rs2126696915
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389499 SCV001590891 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075802). 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 creates a premature translational stop signal (p.Gln141*) 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, 20673864).
Mendelics RCV002246377 SCV002516564 pathogenic Perrault syndrome 1 2022-05-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002504652 SCV002817296 likely pathogenic not provided 2020-12-02 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity for a recessive disorder (http://gnomad.broadinstitute.org). This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls (PMID: 16385454, 28017249, 27243974). Computational tools yielded predictions that this amino acid change may be damaging to the protein.This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study.

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