ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.432A>G (p.Gln144=)

gnomAD frequency: 0.00004  dbSNP: rs751684215
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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 RCV001324456 SCV001515409 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 144 of the RPGRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPGRIP1 protein. This variant is present in population databases (rs751684215, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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