ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu)

dbSNP: rs2140958637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002251779 SCV005837403 pathogenic Griscelli syndrome type 2 2024-05-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 134 of the RAB27A protein (p.Lys134Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Griscelli syndrome (PMID: 18403584). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1690308). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAB27A protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002251779 SCV002522433 pathogenic Griscelli syndrome type 2 2022-06-01 no assertion criteria provided literature only

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