ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.964CTC[1] (p.Leu323del)

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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 RCV002712139 SCV003014315 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-24 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs758992207, gnomAD 0.003%). This variant, c.967_969del, results in the deletion of 1 amino acid(s) of the RPGRIP1 protein (p.Leu323del), but otherwise preserves the integrity of the reading frame.

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