ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1339-4A>G

gnomAD frequency: 0.00002  dbSNP: rs746665921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204530 SCV001375740 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-06-13 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the RPE65 gene. It does not directly change the encoded amino acid sequence of the RPE65 protein. This variant is present in population databases (rs746665921, gnomAD 0.005%). This variant has been observed in individual(s) with RPE65-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 935854). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001828640 SCV002092739 uncertain significance Leber congenital amaurosis 2020-05-29 no assertion criteria provided clinical testing

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