ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.940C>T (p.Arg314Trp)

gnomAD frequency: 0.00001  dbSNP: rs773048895
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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 RCV001220526 SCV001392521 uncertain significance Leber congenital amaurosis 13 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 314 of the RDH12 protein (p.Arg314Trp). This variant is present in population databases (rs773048895, gnomAD 0.006%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 28512305). ClinVar contains an entry for this variant (Variation ID: 949129). 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: "Benign"; 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.
Natera, Inc. RCV001828755 SCV002091292 uncertain significance Leber congenital amaurosis 2020-05-16 no assertion criteria provided clinical testing

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