ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs)

dbSNP: rs386834151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001853067 SCV002231737 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp622Phefs*5) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CEP290-related ciliopathy (PMID: 17564974). This variant is also known as c1860_1861delAA (p.Glu620Glufs*7). ClinVar contains an entry for this variant (Variation ID: 56732). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050145 SCV000082555 probable-pathogenic Meckel syndrome, type 4 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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