ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.179T>C (p.Leu60Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005088420 SCV005727121 pathogenic Leber congenital amaurosis 2024-11-05 criteria provided, single submitter clinical testing Variant summary: RPE65 c.179T>C (p.Leu60Pro) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251454 control chromosomes. c.179T>C has been reported in the literature in multiple individuals affected with Leber Congenital Amaurosis (examples: Henderson_2007, Kabir_2013, Lin_2024). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 18055820, 23878505, 38219857).No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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