ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter)

gnomAD frequency: 0.00001  dbSNP: rs775425686
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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 RCV001236080 SCV001408792 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln407*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 29178642). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 962258). For these reasons, this variant has been classified as Pathogenic.

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