ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle)

gnomAD frequency: 0.00014  dbSNP: rs774522001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248202 SCV001421672 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-10-18 criteria provided, single submitter clinical testing This variant, c.3402_3404del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the RPGRIP1 protein (p.Met1134_Ser1135delinsIle). This variant is present in population databases (rs774522001, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 972225). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV001248202 SCV002785107 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-07-20 criteria provided, single submitter clinical testing

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