ClinVar Miner

Submissions for variant NM_205861.3(DHDDS):c.191G>A (p.Trp64Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003412947 SCV004123567 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing DHDDS: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003525406 SCV004312459 pathogenic Retinitis pigmentosa 59 2023-05-30 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with congenital disorders of glycosylation (PMID: 27343064). 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.Trp64*) 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).

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