ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)

dbSNP: rs1749878115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001645023 SCV001519140 likely pathogenic Perrault syndrome 1 2021-07-12 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002546240 SCV003439224 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 218 of the HSD17B4 protein (p.Val218Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with D-bifunctional protein deficiency (PMID: 16385454). ClinVar contains an entry for this variant (Variation ID: 1027412). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HSD17B4 protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469556 SCV004192420 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2024-02-22 criteria provided, single submitter clinical testing

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