ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.329_336+5del

dbSNP: rs2082701593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242289 SCV001415366 likely pathogenic Amelocerebrohypohidrotic syndrome 2024-06-24 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 5 (c.329_336+5del) of the ROGDI gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ROGDI are known to be pathogenic (PMID: 22424600, 23086778). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. ClinVar contains an entry for this variant (Variation ID: 967389). 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.

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