ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

gnomAD frequency: 0.00001  dbSNP: rs1290241933
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810939 SCV000951180 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg108*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). 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 Leber congenital amaurosis (PMID: 20683928). ClinVar contains an entry for this variant (Variation ID: 654881). 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.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001030763 SCV001194258 pathogenic Night blindness 2018-03-15 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290458 SCV002579882 pathogenic Leber congenital amaurosis 10 2022-05-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001542774 SCV004216520 pathogenic Bardet-Biedl syndrome 14 2023-09-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274136 SCV001457933 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing
Genomics England Pilot Project, Genomics England RCV001542774 SCV001760313 likely pathogenic Bardet-Biedl syndrome 14 no assertion criteria provided clinical testing

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