ClinVar Miner

Submissions for variant NC_000016.9:g.(?_53672254)_(53676298_?)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 RCV004581612 SCV005062191 likely pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2020-01-14 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. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). This variant has not been reported in the literature in individuals with RPGRIP1L-related conditions. This variant results in the deletion of 18-19 and part of exon 20 (c.2684-911_3028del) of the RPGRIP1L gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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