ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.202C>T (p.Arg68Trp)

gnomAD frequency: 0.00025  dbSNP: rs144697496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528620 SCV000641946 uncertain significance Leber congenital amaurosis 12 2022-09-19 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 68 of the RD3 protein (p.Arg68Trp). This variant is present in population databases (rs144697496, gnomAD 0.07%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 17186464). ClinVar contains an entry for this variant (Variation ID: 466320). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects RD3 function (PMID: 21928830). 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.

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