ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)

dbSNP: rs104894473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000002138 SCV003442288 likely pathogenic Leber congenital amaurosis 13 2022-11-01 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects RDH12 function (PMID: 20006610, 21232531). 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. ClinVar contains an entry for this variant (Variation ID: 2057). This missense change has been observed in individual(s) with autosomal recessive RDH12-related conditions (PMID: 15322982; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 51 of the RDH12 protein (p.Ile51Asn).
OMIM RCV000002138 SCV000022296 pathogenic Leber congenital amaurosis 13 2004-10-01 no assertion criteria provided literature only
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000002138 SCV001432268 pathogenic Leber congenital amaurosis 13 no assertion criteria provided research

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