ClinVar Miner

Submissions for variant NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003448533 SCV004175977 pathogenic Developmental delay and seizures with or without movement abnormalities 2023-11-28 criteria provided, single submitter clinical testing Criteria applied: PS2,PS3,PS4_SUP,PM2_SUP,PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003525415 SCV004267032 pathogenic Retinitis pigmentosa 59 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 233 of the DHDDS protein (p.Pro233Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with DHDDS-related conditions (PMID: 34382076). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 2664983). 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 DHDDS protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects DHDDS function (PMID: 34382076). For these reasons, this variant has been classified as Pathogenic.

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