ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)

gnomAD frequency: 0.00001  dbSNP: rs121434337
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091055 SCV001246892 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000002140 SCV001367154 pathogenic Leber congenital amaurosis 13 2018-10-11 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3.
Invitae RCV000002140 SCV001420497 pathogenic Leber congenital amaurosis 13 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 155 of the RDH12 protein (p.Thr155Ile). This variant is present in population databases (rs121434337, gnomAD 0.004%). This missense change has been observed in individuals with autosomal recessive retinal dystrophy (PMID: 16269441, 28157192, 30134391). ClinVar contains an entry for this variant (Variation ID: 2059). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RDH12 protein function. Experimental studies have shown that this missense change affects RDH12 function (PMID: 16269441). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000002140 SCV002518971 pathogenic Leber congenital amaurosis 13 2022-05-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002287317 SCV002577891 pathogenic Rod-cone dystrophy 2021-10-26 criteria provided, single submitter clinical testing ACMG categories: PS1,PM2,PM7,PP3,PP5
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV001826405 SCV004030284 pathogenic Leber congenital amaurosis 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324481 SCV004030285 pathogenic Cone-rod dystrophy 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Baylor Genetics RCV000002140 SCV004208577 pathogenic Leber congenital amaurosis 13 2023-09-19 criteria provided, single submitter clinical testing
OMIM RCV000002140 SCV000022298 pathogenic Leber congenital amaurosis 13 2005-12-15 no assertion criteria provided literature only
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000002140 SCV001432276 pathogenic Leber congenital amaurosis 13 no assertion criteria provided research
Natera, Inc. RCV001826405 SCV002091269 pathogenic Leber congenital amaurosis 2021-06-01 no assertion criteria provided clinical testing

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