ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.335del (p.Asn112fs)

dbSNP: rs756644243
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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 RCV001939967 SCV002178832 pathogenic Griscelli syndrome type 2 2024-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn112Thrfs*3) 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). This variant is present in population databases (rs756644243, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with Griscelli syndrome type 2 (PMID: 30104219, 31233462). ClinVar contains an entry for this variant (Variation ID: 1409958). For these reasons, this variant has been classified as Pathogenic.

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