ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797267 SCV000936816 likely pathogenic Leber congenital amaurosis 13 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 161 of the RDH12 protein (p.Arg161Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs759408031, ExAC 0.006%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant or in combination with RDH12 rare variants in several individuals affected with retinal dystrophy (PMID: 22065924, 27032803, 27939946). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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