ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.297G>A (p.Arg99=)

gnomAD frequency: 0.00001  dbSNP: rs575487939
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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 RCV001040972 SCV001204566 uncertain significance Leber congenital amaurosis 12 2022-08-10 criteria provided, single submitter clinical testing This sequence change affects codon 99 of the RD3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RD3 protein. It affects a nucleotide within the consensus splice site. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 839260). This variant has not been reported in the literature in individuals affected with RD3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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