ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, Department of Biology, Semnan University RCV002281669 SCV002569124 pathogenic Retinitis pigmentosa 20 2018-04-09 criteria provided, single submitter case-control The identified mutation leads to the substitution of Phenylalanine 57 with Serine (F57S) in the RPE65 protein. Hence, this substitution alters the amino acid sequence and leads to a decreased function of mutated protein.

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