ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)

dbSNP: rs141281020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501657 SCV000596646 pathogenic Griscelli syndrome type 2 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000501657 SCV002165795 pathogenic Griscelli syndrome type 2 2022-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RAB27A protein in which other variant(s) (p.Ala87Pro) have been determined to be pathogenic (PMID: 16278825, 25544030, 26880764). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 436459). Disruption of the initiator codon has been observed in individual(s) with Griscelli syndrome type 2 (PMID: 32965739). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the RAB27A mRNA. The next in-frame methionine is located at codon 93.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263710 SCV002542922 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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