ClinVar Miner

Submissions for variant NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004698763 SCV005200477 likely pathogenic Retinitis pigmentosa 77 2024-08-13 criteria provided, single submitter clinical testing This variant (nonsense) in gene REEP6, predicted to cause Nonsense-Mediated Decay (NMD). Loss-of-function is a known mechanism of disease. The truncated region contains 15 pathogenic variants (PVS1).Variant not found in gnomAD genomes, GnomAD exomes homozygous allele count = 0 is less than 2 for AR gene REEP6 (PM2). we identified this variant in a homozygous state in a 36-year-old woman with a clinical presentation of retinitis pigmentosa.

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