ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.644-5T>A

dbSNP: rs2100819923
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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 RCV001420348 SCV001622397 uncertain significance Retinitis pigmentosa 20 2021-02-13 criteria provided, single submitter clinical testing A homozygous 3' splice variation in intron 6 of the RPE65 gene that affects the position 5 nucleotide upstream of acceptor splice site of exon 6. The observed variant c.644-5T>A (3'splice site) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference base is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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