ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3859T>C (p.Ter1287Arg)

gnomAD frequency: 0.00002  dbSNP: rs1029178575
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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 RCV001954982 SCV002199233 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-12-15 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the RPGRIP1 mRNA. It is expected to extend the length of the RPGRIP1 protein by 21 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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