ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3310-1_3310delinsAA

dbSNP: rs2037150824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054904 SCV001219262 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-27 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 29 of the CEP290 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. Disruption of this splice site has been observed in individuals with Leber congenital amaurosis (PMID: 20683928). ClinVar contains an entry for this variant (Variation ID: 850684). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002275193 SCV002563135 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing

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