Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |
Gene |
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 |
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, |
RCV001823151 | SCV005188531 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV001273793 | SCV001457289 | uncertain significance | Bifunctional peroxisomal enzyme deficiency | 2020-01-17 | no assertion criteria provided | clinical testing |