ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) (rs61751282)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701390 SCV000830190 likely pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 44 of the RPE65 protein (p.Arg44Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs61751282, ExAC 0.02%). This variant has been reported to be homozygous or compound heterozygous in several individuals affected with Leber's Congenital Amaurosis (PMID: 11462243, 19431183, 15024725, 20079931, 18539930). ClinVar contains an entry for this variant (Variation ID: 98840). Experimental studies have shown that this missense results in a significant reduction in RPE65 enzymatic activity (PMID: 16150724). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Retina International RCV000085166 SCV000117303 not provided not provided no assertion provided not provided

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