ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.302A>G (p.Asp101Gly)

gnomAD frequency: 0.00001  dbSNP: rs374675592
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179020 SCV000231209 uncertain significance not provided 2014-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001316202 SCV001506808 uncertain significance Leber congenital amaurosis 13 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 101 of the RDH12 protein (p.Asp101Gly). This variant is present in population databases (rs374675592, gnomAD 0.002%). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 30372751). ClinVar contains an entry for this variant (Variation ID: 197879). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV000179020 SCV003798531 uncertain significance not provided 2022-07-31 criteria provided, single submitter clinical testing Identified in patients with features of RDH12-associated retinal degeneration in published literature, but it is unknown whether these individuals were screened for variants in other genes associated with retinal dystrophy (Aleman et al., 2018; Fahim et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30372751, 30979730)
Natera, Inc. RCV001826912 SCV002091264 uncertain significance Leber congenital amaurosis 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004725029 SCV005335395 uncertain significance RDH12-related disorder 2024-08-23 no assertion criteria provided clinical testing The RDH12 c.302A>G variant is predicted to result in the amino acid substitution p.Asp101Gly. This variant was reported, along with a second plausible causative variant, in individuals with retinal disease (Aleman et al. 2018. PubMed ID: 30372751; Fahim et al. 2019. PubMed ID: 30979730). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be pathogenic, the clinical significance of this variant is classified as uncertain at this time due to the absence of conclusive functional and genetic evidence.

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