ClinVar Miner

Submissions for variant NC_000005.9:g.118829592G>T

gnomAD frequency: 0.00001  dbSNP: rs368744809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002518408 SCV003439225 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 273 of the HSD17B4 protein (p.Trp273Cys). This variant is present in population databases (rs368744809, gnomAD 0.0009%). This missense change has been observed in individuals with D-bifunctional protein deficiency (PMID: 16385454). ClinVar contains an entry for this variant (Variation ID: 242582). 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 expected to disrupt HSD17B4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003463693 SCV004192370 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2024-03-09 criteria provided, single submitter clinical testing

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