ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.343+3_343+6del

dbSNP: rs886051317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000267133 SCV000393159 uncertain significance Griscelli syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003505105 SCV004321302 uncertain significance Griscelli syndrome type 2 2023-09-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 316648). This variant has not been reported in the literature in individuals affected with RAB27A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 4 of the RAB27A gene. It does not directly change the encoded amino acid sequence of the RAB27A protein. It affects a nucleotide within the consensus splice site.

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