ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1655A>T (p.Asp552Val)

dbSNP: rs1753560298
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001984176 SCV002281087 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-05-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with HSD17B4-related conditions. This sequence change replaces aspartic acid with valine at codon 552 of the HSD17B4 protein (p.Asp552Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency).

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