ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)

gnomAD frequency: 0.00001  dbSNP: rs755338751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387346 SCV001587954 pathogenic Griscelli syndrome type 2 2022-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1074135). This variant is also known as 400delAA. This premature translational stop signal has been observed in individual(s) with Griscelli syndrome (PMID: 10835631). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys134Glufs*2) in the RAB27A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAB27A are known to be pathogenic (PMID: 10835631, 23160464).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264291 SCV002542926 likely pathogenic Autoinflammatory syndrome 2021-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001387346 SCV002810986 pathogenic Griscelli syndrome type 2 2022-04-12 criteria provided, single submitter clinical testing

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