ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.2163G>A (p.Met721Ile)

dbSNP: rs2126934715
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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 RCV002049650 SCV002312573 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-03-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 721 of the HSD17B4 protein (p.Met721Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant has not been reported in the literature in individuals with HSD17B4-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HSD17B4 protein function. 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.

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