ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)

gnomAD frequency: 0.00001  dbSNP: rs28940313
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000002127 SCV001139479 likely pathogenic Leber congenital amaurosis 13 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000002127 SCV001198327 pathogenic Leber congenital amaurosis 13 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 226 of the RDH12 protein (p.Tyr226Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal recessive retinal dystrophy (PMID: 15258582). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2046). 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 RDH12 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects RDH12 function (PMID: 15258582). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073384 SCV001238925 pathogenic Retinal dystrophy 2019-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092306 SCV001248739 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000002127 SCV004208608 pathogenic Leber congenital amaurosis 13 2023-03-03 criteria provided, single submitter clinical testing
OMIM RCV000002127 SCV000022285 pathogenic Leber congenital amaurosis 13 2004-10-01 no assertion criteria provided literature only
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000002127 SCV001432286 pathogenic Leber congenital amaurosis 13 no assertion criteria provided research

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