ClinVar Miner

Submissions for variant NC_000016.9:g.(?_53721765)_(53734645_?)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 RCV001945600 SCV002193087 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-03-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RPGRIP1L-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-5 of the RPGRIP1L gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 5 of the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409).

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