ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.2694+1G>T

dbSNP: rs1349385657
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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 RCV003556083 SCV004297263 likely pathogenic not provided 2023-08-03 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 31032). Disruption of this splice site has been observed in individual(s) with Seckel syndrome (PMID: 21131973). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 19 of the CEP152 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CEP152 are known to be pathogenic (PMID: 21131973).
OMIM RCV000024026 SCV000045317 pathogenic Seckel syndrome 5 2011-01-01 no assertion criteria provided literature only

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