ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile)

gnomAD frequency: 0.00001  dbSNP: rs375339818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177063 SCV000228881 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516725 SCV003030328 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-11-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 59 of the HSD17B4 protein (p.Val59Ile). This variant is present in population databases (rs375339818, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. ClinVar contains an entry for this variant (Variation ID: 196269). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004984720 SCV005602018 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.175G>A (p.V59I) alteration is located in exon 3 (coding exon 3) of the HSD17B4 gene. This alteration results from a G to A substitution at nucleotide position 175, causing the valine (V) at amino acid position 59 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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