ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.3428del (p.Asn1143fs)

dbSNP: rs1806088809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780209 SCV002019884 pathogenic Retinitis pigmentosa 1 2020-09-02 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001780209 SCV005375252 likely pathogenic Retinitis pigmentosa 1 2024-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (GRCh38; NM_006269.2:c.3428del:p.Asn1143IlefsTer25) in the RP1 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. Not observed at significant frequency in large population cohorts (gnomAD). ClinVar contains an entry for this variant (Variation ID: 979006). This variant is associated with the following publications: PubMed: 23105016, 22317909, 26355662 In summary, this variant meets our criteria for classification as Likely pathogenic based on the evidence outlined
Faculty of Health Sciences, Beirut Arab University RCV001257890 SCV001434658 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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