ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002633993 SCV003520193 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002633994 SCV003733907 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.1901G>A (p.R634H) alteration is located in exon 22 (coding exon 22) of the HSD17B4 gene. This alteration results from a G to A substitution at nucleotide position 1901, causing the arginine (R) at amino acid position 634 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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