ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)

dbSNP: rs761167763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075351 SCV001240972 likely pathogenic Retinal dystrophy 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV001212314 SCV001383894 pathogenic Leber congenital amaurosis 13 2023-08-14 criteria provided, single submitter clinical testing This missense change has been observed in individuals with autosomal recessive inherited retinal dystrophy including Leber congenital amaurosis (PMID: 22065924, 23661369, 30134391). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 169 of the RDH12 protein (p.Arg169Trp). This variant is present in population databases (no rsID available, gnomAD 0.004%). ClinVar contains an entry for this variant (Variation ID: 866945). 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 RDH12 protein function. This variant disrupts the p.Arg169 amino acid residue in RDH12. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22065924, 25133751). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324554 SCV004030286 pathogenic Leber congenital amaurosis 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Baylor Genetics RCV001212314 SCV004208589 pathogenic Leber congenital amaurosis 13 2023-08-15 criteria provided, single submitter clinical testing

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