ClinVar Miner

Submissions for variant NC_000016.9:g.(?_53672132)_(53679723_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024882 SCV002312657 likely pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-07-12 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. This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant results in the deletion of exon(s) 18-20 and part of exon 17 (c.2497_3060+90delins284) of the RPGRIP1L 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 RPGRIP1L are known to be pathogenic (PMID: 17558409).

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