ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)

gnomAD frequency: 0.00004  dbSNP: rs371586530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239945 SCV001412854 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 36 of the RPE65 protein (p.Leu36Phe). This variant is present in population databases (rs371586530, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. ClinVar contains an entry for this variant (Variation ID: 965484). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPE65 protein function. 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.
Natera, Inc. RCV001834109 SCV002092780 uncertain significance Leber congenital amaurosis 2020-02-26 no assertion criteria provided clinical testing

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