ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6271-8T>G

dbSNP: rs1039146791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988880 SCV001138778 pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869357 SCV002135930 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 802875). This variant has been observed in individual(s) with clinical features of Joubert syndrome and/or Leber congenital amaurosis (PMID: 17409309, 29186038). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change falls in intron 45 of the CEP290 gene. It does not directly change the encoded amino acid sequence of the CEP290 protein.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252287 SCV002523778 likely pathogenic See cases 2020-08-25 criteria provided, single submitter clinical testing ACMG classification criteria: PS4, PM2, PM3, PP3
Baylor Genetics RCV003467551 SCV004214863 pathogenic Bardet-Biedl syndrome 14 2023-10-16 criteria provided, single submitter clinical testing

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