ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.45+9_45+20del

dbSNP: rs772340154
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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 RCV000034353 SCV000634367 likely pathogenic Amelocerebrohypohidrotic syndrome 2024-08-12 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the ROGDI gene. It does not directly change the encoded amino acid sequence of the ROGDI 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 (rs772340154, gnomAD 0.02%). This variant has been observed in individual(s) with Kohlschutter–Tonz syndrome (PMID: 23086778). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 41467). Studies have shown that this variant results in disrupted mRNA splicing, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 23086778). 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.
OMIM RCV000034353 SCV000058334 pathogenic Amelocerebrohypohidrotic syndrome 2013-02-01 no assertion criteria provided literature only

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