ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004765430 SCV005375266 likely pathogenic Griscelli syndrome type 2 2024-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (GRCh38; NM_004580.5:c.514C>T:p.Gln172Ter) in the RAB27A protein. This alteration is expected to result in loss of function by premature termination codon resulting in protein truncation, or nonsense-mediated mRNA decay. This alteration is interpreted as disease-causing mutation, a commonly known mechanism for disease. To our knowledge this variant not been previously curated or reported in public Database. Not observed at significant frequency in large population cohorts (gnomAD). In-silico analysis supports that this nonsense variant is pathogenic. This alteration is interpreted as disease-causing mutation, a commonly known mechanism for disease. In summary, this variant meets our criteria to be classified as Likely pathogenic for Griscelli syndrome in an autosomal recessive manner based the evidence outlined.

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