ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1067del (p.Asn356fs)

dbSNP: rs281865520
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383022 SCV001582030 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn356Metfs*17) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 9843205, 18632300). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive Leber congenital amaurosis (PMID: 9326927). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 98821). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000013992 SCV001737349 pathogenic Leber congenital amaurosis 2 2021-06-10 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002466426 SCV002761671 pathogenic RPE65-related recessive retinopathy 2022-01-14 criteria provided, single submitter clinical testing
OMIM RCV000013992 SCV000034239 pathogenic Leber congenital amaurosis 2 1997-10-01 no assertion criteria provided literature only
Retina International RCV000085145 SCV000117282 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000013992 SCV001425581 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research
Natera, Inc. RCV001826772 SCV002092747 pathogenic Leber congenital amaurosis 2021-03-08 no assertion criteria provided clinical testing

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