Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229421 | SCV000290125 | pathogenic | Familial aplasia of the vermis | 2015-12-16 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 10 of the RPGRIP1L mRNA (c.1120delC), causing a frameshift at codon 374. This creates a premature translational stop signal (p.His374Metfs*7) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001388952 | SCV001590132 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2015-12-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). This sequence change deletes 1 nucleotide from exon 10 of the RPGRIP1L mRNA (c.1120delC), causing a frameshift at codon 374. This creates a premature translational stop signal (p.His374Metfs*7) and is expected to result in an absent or disrupted protein product. |