ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)

dbSNP: rs2040497202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245425 SCV001418713 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2019-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). This variant has not been reported in the literature in individuals with CEP290-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu98Hisfs*18) in the CEP290 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003469472 SCV004216707 likely pathogenic Bardet-Biedl syndrome 14 2023-02-09 criteria provided, single submitter clinical testing

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