ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)

gnomAD frequency: 0.00001  dbSNP: rs577932201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002516255 SCV003442267 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 236507). This premature translational stop signal has been observed in individual(s) with RPGRIP1-related conditions (PMID: 27208204). This variant is present in population databases (rs577932201, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Gln772*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225680 SCV000282617 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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