ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)

dbSNP: rs104894500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000006356 SCV001207071 pathogenic Griscelli syndrome type 2 2023-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln118*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Griscelli syndrome (PMID: 15163896, 23160464). ClinVar contains an entry for this variant (Variation ID: 5990). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002251884 SCV002523449 pathogenic See cases 2020-01-05 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4, PM2, PM3
OMIM RCV000006356 SCV000026538 pathogenic Griscelli syndrome type 2 2004-07-01 no assertion criteria provided literature only
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001778648 SCV002014783 risk factor Multisystem inflammatory syndrome in children 2021-11-14 no assertion criteria provided research

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