ClinVar Miner

Submissions for variant NM_001017979.3(RAB28):c.76-9A>G

gnomAD frequency: 0.00002  dbSNP: rs372774679
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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 RCV001041762 SCV001205397 likely pathogenic not provided 2024-04-03 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the RAB28 gene. It does not directly change the encoded amino acid sequence of the RAB28 protein. This variant is present in population databases (rs372774679, gnomAD 0.007%). This variant has been observed in individuals with RAB28-related conditions (PMID: 33396523; Invitae). ClinVar contains an entry for this variant (Variation ID: 839900). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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