ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2512del (p.Glu838fs)

dbSNP: rs2147197281
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002276514 SCV002562876 pathogenic X-linked cone-rod dystrophy 1 2022-02-22 criteria provided, single submitter clinical testing A hemizygous single base pair deletion in exon 15 of the RPGR gene that results in a frameshift and premature truncation of the protein 251amino acids downstream to codon 838 was detected. The p.Glu838ArgfsTer251 variant has not been reported in the 1000 genomes and gnomAD databases. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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