ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val)

gnomAD frequency: 0.00034  dbSNP: rs137946207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729881 SCV000857574 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000729881 SCV001813312 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28649525)
Invitae RCV002060984 SCV002468192 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535828 SCV004116581 uncertain significance HSD17B4-related disorder 2022-09-22 criteria provided, single submitter clinical testing The HSD17B4 c.1138A>G variant is predicted to result in the amino acid substitution p.Ile380Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.088% of alleles in individuals of African descent in gnomAD ( 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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