ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2794C>G (p.Pro932Ala)

gnomAD frequency: 0.00005  dbSNP: rs773491339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074916 SCV001240521 uncertain significance Retinal dystrophy 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV001862580 SCV002129561 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 932 of the RPGRIP1 protein (p.Pro932Ala). This variant is present in population databases (rs773491339, gnomAD 0.02%). This missense change has been observed in individual(s) with Leber congenital amaurosis (Invitae). ClinVar contains an entry for this variant (Variation ID: 866687). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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