ClinVar Miner

Submissions for variant NM_205861.3(DHDDS):c.441-24A>G

gnomAD frequency: 0.00004  dbSNP: rs764831063
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001860002 SCV002262964 likely pathogenic Retinitis pigmentosa 59 2025-01-23 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the DHDDS gene. It does not directly change the encoded amino acid sequence of the DHDDS protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is present in population databases (rs764831063, gnomAD 0.009%). This variant has been observed in individuals with autosomal recessive DHDDS-related conditions (PMID: 27343064, 31047384). ClinVar contains an entry for this variant (Variation ID: 488195). Studies have shown that this variant results in activation of a cryptic splice site, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 27343064). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV001860002 SCV004193303 likely pathogenic Retinitis pigmentosa 59 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000578121 SCV000679987 pathogenic Congenital disorder of glycosylation, type Ibb 2018-01-24 no assertion criteria provided literature only

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