ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr)

gnomAD frequency: 0.00001  dbSNP: rs544455125
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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) RCV000595472 SCV000707154 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV001242510 SCV001415603 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 93 of the HSD17B4 protein (p.Ile93Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs544455125, ExAC 0.07%). 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: 500977). 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. 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.
Natera, Inc. RCV001834901 SCV002075397 uncertain significance Bifunctional peroxisomal enzyme deficiency 2019-10-28 no assertion criteria provided clinical testing

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