ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1120del (p.His374fs)

dbSNP: rs878855006
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Total submissions: 2
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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.

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