ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)

dbSNP: rs61752880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854498 SCV002236355 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2021-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RPE65 function (PMID: 16828753). 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 expected to disrupt RPE65 protein function. ClinVar contains an entry for this variant (Variation ID: 98868). This missense change has been observed in individuals with Leber congenital amaurosis and/or retinitis pigmentosa (PMID: 11462243, 17724218, 19117922; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with aspartic acid at codon 144 of the RPE65 protein (p.Tyr144Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid.
Retina International RCV000085198 SCV000117335 not provided not provided no assertion provided not provided

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