ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)

gnomAD frequency: 0.00013  dbSNP: rs142889209
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600063 SCV000711604 uncertain significance not specified 2017-09-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro4Arg varia nt in HSD17B4 has not been previously reported in individuals with hearing loss, bi-functional protein deficiency (BPD), or Perrault syndrome. It has been ident ified in 36/126190 European by the Genome Aggregation Database (gnomAD, http://g nomad.broadinstitute.org; dbSNP rs142889209). Although this variant has been see n in the general population, its frequency is not high enough to rule out a path ogenic role. Computational prediction tools suggest that the p.Pro4Arg variant m ay not impact the protein, though this information is not predictive enough to r ule out pathogenicity. In summary, the clinical significance of the p.Pro4Arg va riant is uncertain.
GeneDx RCV001823151 SCV002072676 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35326346, 30692775)
Labcorp Genetics (formerly Invitae), Labcorp RCV002529294 SCV003271973 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529295 SCV003757848 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.11C>G (p.P4R) alteration is located in exon 1 (coding exon 1) of the HSD17B4 gene. This alteration results from a C to G substitution at nucleotide position 11, causing the proline (P) at amino acid position 4 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001823151 SCV005188531 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273793 SCV001457289 uncertain significance Bifunctional peroxisomal enzyme deficiency 2020-01-17 no assertion criteria provided clinical testing

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