ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)

gnomAD frequency: 0.00029  dbSNP: rs35281104
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595870 SCV000708535 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV002532638 SCV003269167 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532637 SCV003611289 uncertain significance Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing The c.1685G>A (p.R562H) alteration is located in exon 20 (coding exon 20) of the HSD17B4 gene. This alteration results from a G to A substitution at nucleotide position 1685, causing the arginine (R) at amino acid position 562 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000595870 SCV004169676 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing Functional studies in E. coli demonstrated that the R562H variant increased, rather than decreased, hydratase activity of the D-bifunctional protein (Tsuchida et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28649525)
PreventionGenetics, part of Exact Sciences RCV004543384 SCV004762951 uncertain significance HSD17B4-related disorder 2024-02-28 criteria provided, single submitter clinical testing The HSD17B4 c.1685G>A variant is predicted to result in the amino acid substitution p.Arg562His. To our knowledge, this variant has not been reported in the literature in association with HSD17B4 related diseases. This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-118862832-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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