ClinVar Miner

Submissions for variant NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466163 SCV004193304 likely pathogenic Retinitis pigmentosa 59 2023-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003466163 SCV004253750 pathogenic Retinitis pigmentosa 59 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser88Argfs*2) 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). This variant is not present in population databases (gnomAD no frequency). 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.

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