ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.898del (p.Val300fs)

gnomAD frequency: 0.00001  dbSNP: rs1566674893
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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 RCV002007139 SCV002227880 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val300Phefs*16) 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).

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