ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter)

dbSNP: rs2139227650
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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 RCV001958667 SCV002236502 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-01-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This sequence change creates a premature translational stop signal (p.Gln644*) 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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