ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)

gnomAD frequency: 0.00001  dbSNP: rs62636297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001339104 SCV001532825 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 407 of the RPE65 protein (p.Val407Ala). This variant is present in population databases (rs62636297, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of RPE65-related conditions (PMID: 9501220). ClinVar contains an entry for this variant (Variation ID: 98833). 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.
Retina International RCV000085158 SCV000117295 not provided not provided no assertion provided not provided
Natera, Inc. RCV001835681 SCV002092741 uncertain significance Leber congenital amaurosis 2021-02-01 no assertion criteria provided clinical testing

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