ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.635del (p.Asn212fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003056987 SCV003341397 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn212Thrfs*14) 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 variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 2124093). For these reasons, this variant has been classified as Pathogenic.

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