ClinVar Miner

Submissions for variant NM_183059.2(RD3):c.202C>T (p.Arg68Trp) (rs144697496)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528620 SCV000641946 uncertain significance Leber congenital amaurosis 12 2017-05-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 68 of the RD3 protein (p.Arg68Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs144697496, ExAC 0.06%). This variant has been reported in the heterozygous state in an individual affected with retinitis pigmentosa (PMID: 17186464). An experimental study has shown that this missense change does not alter RD3 protein expression, but decreases its activity in vitro (PMID: 21928830). In summary, this variant is a rare missense change with a mild impact on protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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