ClinVar Miner

Submissions for variant NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)

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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 RCV002824280 SCV003200681 pathogenic Retinitis pigmentosa 59 2022-05-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DHDDS-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp171*) in the DHDDS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DHDDS are known to be pathogenic (PMID: 24664742).
Baylor Genetics RCV002824280 SCV004193307 likely pathogenic Retinitis pigmentosa 59 2023-03-22 criteria provided, single submitter clinical testing

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