ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1151+1G>A

dbSNP: rs751096098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250894 SCV002521084 pathogenic Leber congenital amaurosis 6 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Rare Diseases Genetics and Genomics, Islamia College Peshawar RCV002250894 SCV002818298 pathogenic Leber congenital amaurosis 6 2022-07-25 no assertion criteria provided research

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