ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.955del (p.Ser319fs)

dbSNP: rs764507012
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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 RCV001385880 SCV001585888 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser319Leufs*16) 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 present in population databases (rs764507012, gnomAD 0.001%). This premature translational stop signal has been observed in individual(s) with CEP290-related conditions (PMID: 23351400). ClinVar contains an entry for this variant (Variation ID: 1073010). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004570957 SCV005057316 pathogenic Bardet-Biedl syndrome 14 2024-03-22 criteria provided, single submitter clinical testing

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