ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.577C>T (p.Arg193Cys)

gnomAD frequency: 0.00017  dbSNP: rs148629905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243251 SCV001416397 uncertain significance Leber congenital amaurosis 13 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 193 of the RDH12 protein (p.Arg193Cys). This variant is present in population databases (rs148629905, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. ClinVar contains an entry for this variant (Variation ID: 968175). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001836220 SCV002091275 uncertain significance Leber congenital amaurosis 2020-01-16 no assertion criteria provided clinical testing

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