ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1101A>G (p.Arg367=)

dbSNP: rs1553152989
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001865522 SCV002168882 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-01-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 28714225). ClinVar contains an entry for this variant (Variation ID: 427868). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 28714225). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 367 of the RPE65 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPE65 protein.
Mendelics RCV002248718 SCV002518986 pathogenic Leber congenital amaurosis 2 2022-05-04 criteria provided, single submitter clinical testing
3billion RCV002248718 SCV002521227 likely pathogenic Leber congenital amaurosis 2 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.99). The variant is in trans with the other variant (3billion dataset). The variant has been reported to be associated with RPE65 related disorder (ClinVar ID: VCV000427868). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV000515747 SCV004030304 likely pathogenic Leber congenital amaurosis 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Rui Chen Lab, Baylor College of Medicine RCV000515747 SCV000579425 pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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