ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.2127C>G (p.Phe709Leu)

dbSNP: rs541911825
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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 RCV001897120 SCV002156175 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-11-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs541911825, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 709 of the HSD17B4 protein (p.Phe709Leu). This variant has not been reported in the literature in individuals affected 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. ClinVar contains an entry for this variant (Variation ID: 1381705).

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