ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)

gnomAD frequency: 0.00001  dbSNP: rs1348186141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989173 SCV001139393 uncertain significance Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858701 SCV002306667 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-05-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individuals with Leber congenital amaurosis (PMID: 32865313). ClinVar contains an entry for this variant (Variation ID: 803003). 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. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 671 of the RPGRIP1 protein (p.Gly671Glu).

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