ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.101C>T (p.Thr34Met)

gnomAD frequency: 0.00019  dbSNP: rs148242709
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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 RCV001363548 SCV001559664 uncertain significance Leber congenital amaurosis 12 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 34 of the RD3 protein (p.Thr34Met). This variant is present in population databases (rs148242709, gnomAD 0.1%). This missense change has been observed in individual(s) with RD3-related conditions (PMID: 23301801). ClinVar contains an entry for this variant (Variation ID: 1054953). 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 tolerated. 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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