Submissions for variant NM_025114.4(CEP290):c.7031_7034+7delinsAT

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003791105	SCV004582928	pathogenic	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2021-05-13	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, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with retinitis pigmentosa (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 51 (c.7031_7034+7delinsAT) of the CEP290 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 CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115).
Baylor Genetics	RCV004573323	SCV005057326	likely pathogenic	Bardet-Biedl syndrome 14	2024-03-12	criteria provided, single submitter	clinical testing