ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)

dbSNP: rs878853339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053170 SCV001217417 pathogenic Leber congenital amaurosis 13 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 304 of the RDH12 protein (p.Trp304Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with autosomal recessive RDH12-related conditions (PMID: 27208204; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 236432). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001053170 SCV004208575 likely pathogenic Leber congenital amaurosis 13 2023-09-21 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225474 SCV000282538 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
Natera, Inc. RCV001828100 SCV002091291 uncertain significance Leber congenital amaurosis 2020-12-10 no assertion criteria provided clinical testing

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